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3. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

Author

Bosman, Willem, Franken, Gijs A. C., de las Heras, Javier, Madariaga, Leire, Barakat, Tahsin Stefan, Oostenbrink, Rianne, van Slegtenhorst, Marjon, Perdomo-Ramírez, Ana, Claverie-Martín, Félix, van Eerde, Albertien M., Vargas-Poussou, Rosa, Dubourg, Laurence Derain, González-Recio, Irene, Martínez-Cruz, Luis Alfonso, de Baaij, Jeroen H. F., and Hoenderop, Joost G. J.

Published
2024
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5. X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation

Author

Buffet, Alexandre, Filser, Mathilde, Bruel, Alexandra, Dard, Rodolphe, Quibel, Thibaud, Dubucs, Charlotte, Kwon, Theresa, Le Tanno, Pauline, Thevenon, Julien, Ziegler, Alban, Allard, Lise, Guigonis, Vincent, Roux, Jean-Jacques, Heidet, Laurence, Rougeulle, Claire, Boyer, Olivia, Vargas-Poussou, Rosa, and Hureaux, Marguerite

Published
2024
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8. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Author

Attié-Bitach, Tania, Comier-Daire, Valerie, Rozet, Jean-Michel, Frishberg, Yaacov, Llanas, Brigitte, Broyer, Michel, Mohsin, Nabil, Macher, Marie-Alice, Philip, Nicole, Baudouin, Véronique, Brackman, Damian, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Guyot, Claude, Bataille, Pierre, Elting, Mariet, Deschenes, Georges, Gropman, Andrea, Guest, Geneviève, Gagnadoux, Marie-France, Nicoud, Philippe, Cochat, Pierre, Ranchin, Bruno, Bensman, Albert, Guerrot, Anne-Marie, Knebelmann, Bertrand, Bilge, Ilmay, Bruno, Danièle, Burtey, Stéphane, Rouvière, Caroline Rousset, Caudwell, Valérie, Morin, Denis, Dollfus, Hélène, Maisin, Anne, Hamel, Christian, Bieth, Eric, Gie, Sophie, Goodship, Judith, Roussey, Gwenaelle, La Selve, Hermine, Nivet, Hubert, Bessenay, Lucie, Caillez, Mathilde, Palcoux, Jean Bernard, Benoît, Stéphane, Dubot, Philippe, Fila, Marc, Giuliano, Fabienne, Iftene, Daouya, Kessler, Michele, Kwon, Theresa, Lahoche, Anine, Laurent, Audrey, Leclerc, Anne-Laure, Milford, David, Neuhaus, Thomas, Odent, Sylvie, Eckart, Philippe, Chauveau, Dominique, Niaudet, Patrick, Repetto, Horacio, Taque, Sophie, Bruel, Alexandra, Noel-Botte, Alexandra, Launay, Emma Allain, Allard, Lisa, Anlicheau, Dany, Adra, Anne-Laure, Garnier, Arnaud, Nagra, Arvind, Baatard, Remy, Bacchetta, Justine, Sadikoglu, Banu, Barnerias, Christine, Barthelemy, Anne, Basel, Lina, Bassilios, Nader, Ben Maiz, Hedi, Ben Moussa, Fatma, Benmati, Faïza, Berthaud, Romain, Bertholet, Aurélia, Blanchier, Dominique, Boffa, Jean Jacques, Bouchireb, Karim, Bouhabel, Ihab, Boukerroucha, Zakaria, Bourdat-Michel, Guylhène, Boute, Odile, Brochard, Karine, Caumes, Roseline, Elalaoui, Siham Chafai, Chamontin, Bernard, Chastang, Marie Caroline, Pietrement, Christine, Richer, Christine, Legendre, Christophe, Dahan, Karin, Dalla-Vale, Fabienne, Thibaudin, Damien, Dauvergne, Maxime, Davourie, Salandre, Debeukelaer, Martin, Delbet, Jean Daniel, Deltas, Constantinos, Graber, Denis, Devillars, Nadège, Diouf, Boucar, Fenzy, Martine Doco, André, Jean-Luc, Joly, Dominique, Fryer, Alan, Albano, Laetitia, Cassuto, Elisabeth, Pincon, Aline, Medeira, Ana, Chaussenot, Annabelle, Mensire-Marinier, Anne, Bouissou, Francois, Decramer, Stephane, Bottani, Armand, Hummel, Aurélie, Karras, Alexandre, Katz, Avi, Azema, Christine, Janbon, Bénédicte, Roussel, Bernard, Bonniol, Claude, Mariat, Christiophe, Champion, Gérard, Chantreuil, Deborah, Chassaing, Nicolas, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Mignot, Cyril, Dehoux, Laurene, Lacombe, Didier, Hannedouche, Thierry, Mérieau, Elodie, Charlin, Emmanuelle, Gauthier, Eric, Plasse, Florent, Faguer, Stanislas, Lebas, Fanny, Demurger, Florence, Emma, Francesco, Cartault, François, Dumont, Geneviève, Godefroid, Nathalie, Guigonis, Vincent, Hillaire, Sophie, Groothoff, Jaap, Dudley, Jan, Jourde-Chiche, Noémie, El Karoui, Khalil, Krid, Saoussen, Coudert, Krier, Bencheick, Larbi, Yver, Laurent, Lavocat, Marie-Pierre, De Sagazan, Le Monies, Leroy, Valerie, Thibaudin, Lise, Ingulli, Liz, Gwanmesia, Lorraine, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Carrera, Marta, Nizon, Mathilde, Melander, Catherine, Foulard, Michel, Blayo, Monique, Prinseau, Jacques, Jay, Nadine, Brun, Nathalie, Camille, Nicolas, Nobili, François, Devuyst, Olivier, Ben Brahim, Ouafa, Parvex, Paloma, Sabourin, Laurence Perrin, Blanc, Philippe, Vanhille, Philippe, Galichon, Pierre, Pierrepont, Sophie, Planquois, Vincent, Poussard, Gwenaelle, Noble, Claire Pouteil, Allal, Radia, Bernard, Raphaelle, Mounet, Raynaud, Cahen, Rémi, Touraine, Renaud, Rigothier, Claire, Ryckewaert, Amélie, Sacquepee, Mathieu, El Chehadeh, Salima, Samaille, Charlotte, Haq, Shuman, Simckes, Ari, Lanoiselée, Stéphanie, Tellier, Stephanie, Subra, Jean-François, Cloarec, Sylvie, Tenenbam, Julie, Lamy, Thomas, Garraud, Valérie Drouin, Valette, Huguette, Meyssonnier, Vanina, Vargas-Poussou, Rosa, Snajer, Yves, Durault, Sandrine, Plaisier, Emmanuelle, Berard, Etienne, Fakhouri, Fadi, Louillet, Ferielle, Finielz, Paul, Fischbach, Michel, Foliguet, Bernard, Francois-Pradier, Hélène, Garaix, Florentine, Gerard, Marion, Rizzoni, Gianfranco, Gilbert, Brigitte, Glotz, Denis, Dubrasquet, Astrid Godron, Grünfeld, Jean-Pierre, Bollee, Guillaume, Hall, Michelle, Hansson, Sverker, Haye, Damien, Taffin, Hélène, Hildebrandt, Friedhelm, Hourmand, Maryvonne, Kayserili, Hümya, Tack, Ivan, Jacquemont, Marie Line, Fabre-Teste, Jennifer, Kashtan, Cliff, Van Hoeck, Kkoen, Klein, Alexandre, Knefati, Yannick, Knoers, Nine, Konrad, Martin, Lachaux, Alain, Landru, Isabelle, Landthaler, Gilbert, Lang, Philippe, Le Pogamp, Patrick, Legris, Tristan, Didailler, Catherine, Lobbedez, Thierry, de Parscau, Loïc, Pinson, Lucile, Maheut, Hervé, Duval-Arnould, Marc, Rio, Marlène, Gubler, Marie-Claire, Merville, Pierre, Mestrallet, Guillaume, Meunier, Maite, Moreau, Karine, Harambat, Jérôme, Morgan, Graeme, Mourad, Georges, Stuber, Niksic, Boespflug-Tanguy, Odile, Dunand, Olivier, Niel, Olivier, Ouali, Nacera, Malvezzi, Paolo, Jaoude, Pauline Abou, Pelletier, Solenne, Peltier, Julie, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Philit, Jean-Baptiste, Pichault, Valérie, Billette de Villemeur, Thierry, Boudailliez, Bernard, Leheup, Bruno, Dossier, Claire, Djeddi, Djamal-Dine, Berland, Yves, Hurault de Ligny, Bruno, Rigden, Susan, Robino, Christophe, Rossi, Annick, Sarnacki, Sabine, Saidani, Messaoud, Sartorius, Albane Brodin, Schäfer, Elise, Laszlo, Sztriha, Thouret, Marie-Christine, Thuillier-Lecouf, Angélique, Trachtman, Howard, Trivin, Claire, Tsimaratos, Michel, Van Damme-Lombaerts, Rita, Willems, Marjolaine, Youssef, Michel, Zaloszyc, Ariane, Zawodnik, Alexis, Ziliotis, Marie-Julia, Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, and Saunier, Sophie

Published
2023
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14. Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome

Author

Vargas-Poussou, Rosa

Subjects
Genetic disorders -- Diagnosis -- Development and progression -- Risk factors, Hyperaldosteronism -- Diagnosis -- Development and progression -- Risk factors, Health
Abstract

The thick ascending limb plays a central role in human kidney physiology, participating in sodium reabsorption, urine concentrating mechanisms, calcium and magnesium homeostasis, bicarbonate and ammonium homeostasis, and uromodulin synthesis. This review aims to illustrate the importance of these roles from a pathophysiological point of view by describing the interactions of the key proteins of this segment and by discussing how recently identified and long-known hereditary diseases affect this segment. The descriptions of two recently described salt-losing tubulopathies, transient antenatal Bartter syndrome and HELIX syndrome, which are caused by mutations in MAGED2 and CLDN10 genes, respectively, highlight the role of new players in the modulation of sodium reabsorption the thick ascending limb., Author(s): Rosa Vargas-Poussou [sup.1] [sup.2] [sup.3] Author Affiliations: (1) grid.414093.b, 0000 0001 2183 5849, Department of Molecular Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, , 20-40 rue Leblanc, [...]

Published
2022
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17. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders

Author

Konrad, Martin, Nijenhuis, Tom, Ariceta, Gema, Bertholet-Thomas, Aurelia, Calo, Lorenzo A., Capasso, Giovambattista, Emma, Francesco, Schlingmann, Karl P., Singh, Mandeep, Trepiccione, Francesco, Walsh, Stephen B., Whitton, Kirsty, Vargas-Poussou, Rosa, and Bockenhauer, Detlef

Published
2021
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18. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

Author

Genetica, Genetica Klinische Genetica, Cancer, Child Health, Bosman, Willem, Franken, Gijs A.C., de las Heras, Javier, Madariaga, Leire, Barakat, Tahsin Stefan, Oostenbrink, Rianne, van Slegtenhorst, Marjon, Perdomo-Ramírez, Ana, Claverie-Martín, Félix, van Eerde, Albertien M., Vargas-Poussou, Rosa, Dubourg, Laurence Derain, González-Recio, Irene, Martínez-Cruz, Luis Alfonso, de Baaij, Jeroen H.F., Hoenderop, Joost G.J., Genetica, Genetica Klinische Genetica, Cancer, Child Health, Bosman, Willem, Franken, Gijs A.C., de las Heras, Javier, Madariaga, Leire, Barakat, Tahsin Stefan, Oostenbrink, Rianne, van Slegtenhorst, Marjon, Perdomo-Ramírez, Ana, Claverie-Martín, Félix, van Eerde, Albertien M., Vargas-Poussou, Rosa, Dubourg, Laurence Derain, González-Recio, Irene, Martínez-Cruz, Luis Alfonso, de Baaij, Jeroen H.F., and Hoenderop, Joost G.J.

Published
2024

22. Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis

Author

Louis-Dit-Picard, Helene, Kouranti, Ilektra, Rafael, Chloe, Loisel-Ferreira, Irmine, Chavez-Canales, Maria, Abdel-Khalek, Waed, Argaiz, Eduardo R., Baron, Stephanie, Vacle, Sarah, Migeon, Tiffany, Coleman, Richard, Do Cruzeiro, Marcio, Hureaux, Marguerite, Thurairajasingam, Nirubiah, Decramer, Stephane, Girerd, Xavier, O'Shaugnessy, Kevin, Mulatero, Paolo, Roussey, Gwenaelle, Tack, Ivan, Unwin, Robert, Vargas-Poussou, Rosa, Staub, Olivier, Grimm, Richard, Welling, Paul A., Gamba, Gerardo, Clauser, Eric, Hadchouel, Juliette, and Jeunemaitre, Xavier

Subjects
Gene mutations -- Health aspects, Protein kinases -- Genetic aspects -- Health aspects, Kidney tubules -- Physiological aspects -- Health aspects, Acidosis -- Genetic aspects -- Causes of -- Models, Health care industry
Abstract

Gain-of-function mutations in with no lysine (K)1 (WNK1) and WNK4genes are responsible for familial hyperkalemic hypertension (FHHt), a rare, inherited disorder characterized by arterial hypertension and hyperkalemia with metabolic acidosis. More recently, FHHt-causing mutations in the Kelch-like 3-Cullin 3 (KLHL3-CUL3) E3 ubiquitin ligase complex have shed light on the importance of WNK's cellular degradation on renal ion transport. Using full exome sequencing for a 4-generation family and then targeted sequencing in other suspected cases, we have identified new missense variants in the WNK1 gene clustering in the short conserved acidic motif known to interact with the KLHL3-CUL3 ubiquitin complex. Affected subjects had an early onset of a hyperkalemic hyperchloremic phenotype, but normal blood pressure values' Functional experiments in Xenopus laevis oocytes and HEK293T cells demonstrated that these mutations strongly decrease the ubiquitination of the kidney-specific isoform KS-WNK1 by the KLHL3-CUL3 complex rather than the long ubiquitous catalytically active L-WNK1 isoform. A corresponding CRISPR/Cas9 engineered mouse model recapitulated both the clinical and biological phenotypes. Renal investigations showed increased activation of the Ste20 proline alanine-rich kinase-[Na.sup.+]-[Cl.sup.-] cotransporter (SPAK-NCC) phosphorylation cascade, associated with impaired ROMK apical expression in the distal part of the renal tubule. Together, these new WNK1 genetic variants highlight the importance of the KS-WNK1 isoform abundance on potassium homeostasis., Introduction Familial hyperkalemic hypertension (FHHt), also known as Gordon syndrome and pseudohypoaldosteronism type 2, is a rare disease associated with net positive [Na.sup.+] balance and renal [K.sup.+] retention resulting in [...]

Published
2020
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24. High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

Author

Hureaux, Marguerite, Ashton, Emma, Dahan, Karin, Houillier, Pascal, Blanchard, Anne, Cormier, Catherine, Koumakis, Eugenie, Iancu, Daniela, Belge, Hendrica, Hilbert, Pascale, Rotthier, Annelies, Del Favero, Jurgen, Schaefer, Franz, Kleta, Robert, Bockenhauer, Detlef, Jeunemaitre, Xavier, Devuyst, Olivier, Walsh, Stephen B., and Vargas-Poussou, Rosa

Published
2019
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26. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Author

Ashton, Emma J., Legrand, Anne, Benoit, Valerie, Roncelin, Isabelle, Venisse, Annabelle, Zennaro, Maria-Christina, Jeunemaitre, Xavier, Iancu, Daniela, van’t Hoff, William G., Walsh, Stephen B., Godefroid, Nathalie, Rotthier, Annelies, Del Favero, Jurgen, Devuyst, Olivier, Schaefer, Franz, Jenkins, Lucy A., Kleta, Robert, Dahan, Karin, Vargas-Poussou, Rosa, and Bockenhauer, Detlef

Published
2018
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27. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

Author

Hadj-Rabia, Smail, Brideau, Gaelle, Al-Sarraj, Yasser, Maroun, Rachid C., Figueres, Marie-Lucile, Leclerc-Mercier, Stéphanie, Olinger, Eric, Baron, Stéphanie, Chaussain, Catherine, Nochy, Dominique, Taha, Rowaida Z., Knebelmann, Bertrand, Joshi, Vandana, Curmi, Patrick A., Kambouris, Marios, Vargas-Poussou, Rosa, Bodemer, Christine, Devuyst, Olivier, Houillier, Pascal, and El-Shanti, Hatem

Published
2018
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29. Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

Angelis, Aris, Antignac, Corinne, Bae, Kyongtae, Bergmann, Carsten, Bleyer, Anthony J., Bos, Marjolein, Budde, Klemens, Bull, Katherine, Chauveau, Dominique, Cnaan, Avital, Cornel, Martina, Cosyns, Etienne, de la Fosse, Jane, Ding, Jie, Gear, Susie, Goodship, Timothy H.J., Goodyer, Paul, Gross, Oliver, Harr, Nicole, Harris, Peter C., Harris, Tess, Höfele, Julia, Hogan, Marie C., Hoorn, Ewout, Horie, Shigeo, Kashtan, Clifford E., Kerecuk, Larissa, Kleta, Robert, Konrad, Martin, Langman, Craig B., Mariz, Segundo, McKerracher, Gayle, Nieuwenhoven, Annet, Odland, Dwight, Olinger, Eric, Ortiz, Alberto, Pei, York, Pirson, Yves, Rayner, Brian L., Remuzzi, Giuseppe, Renault, Daniel, Salomon, Rémi, Servais, Aude, Smith, Richard J., Soliman, Neveen A., Stengel, Bénédicte, Storm, Marjolein, Torra, Roser, van't Hoff, William, Vargas-Poussou, Rosa, Vroom, Elizabeth, Wanner, Christoph, Yap, Hui-Kim, Aymé, Ségolène, Bockenhauer, Detlef, Day, Simon, Devuyst, Olivier, Guay-Woodford, Lisa M., Ingelfinger, Julie R., Klein, Jon B., Knoers, Nine V.A.M., Perrone, Ronald D., Roberts, Julia, Schaefer, Franz, Torres, Vicente E., Cheung, Michael, Wheeler, David C., and Winkelmayer, Wolfgang C.

Published
2017
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34. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Author

Petzold, Friederike, primary, Billot, Katy, additional, Chen, Xiaoyi, additional, Henry, Charline, additional, Filhol, Emilie, additional, Martin, Yoann, additional, Avramescu, Marina, additional, Douillet, Maxime, additional, Morinière, Vincent, additional, Krug, Pauline, additional, Jeanpierre, Cécile, additional, Tory, Kalman, additional, Boyer, Olivia, additional, Burgun, Anita, additional, Servais, Aude, additional, Salomon, Remi, additional, Benmerah, Alexandre, additional, Heidet, Laurence, additional, Garcelon, Nicolas, additional, Antignac, Corinne, additional, Zaidan, Mohamad, additional, Saunier, Sophie, additional, Attié-Bitach, Tania, additional, Comier-Daire, Valerie, additional, Rozet, Jean-Michel, additional, Frishberg, Yaacov, additional, Llanas, Brigitte, additional, Broyer, Michel, additional, Mohsin, Nabil, additional, Macher, Marie-Alice, additional, Philip, Nicole, additional, Baudouin, Véronique, additional, Brackman, Damian, additional, Loirat, Chantal, additional, Charbit, Marina, additional, Dehennault, Maud, additional, Guyot, Claude, additional, Bataille, Pierre, additional, Elting, Mariet, additional, Deschenes, Georges, additional, Gropman, Andrea, additional, Guest, Geneviève, additional, Gagnadoux, Marie-France, additional, Nicoud, Philippe, additional, Cochat, Pierre, additional, Ranchin, Bruno, additional, Bensman, Albert, additional, Guerrot, Anne-Marie, additional, Knebelmann, Bertrand, additional, Bilge, Ilmay, additional, Bruno, Danièle, additional, Burtey, Stéphane, additional, Rouvière, Caroline Rousset, additional, Caudwell, Valérie, additional, Morin, Denis, additional, Dollfus, Hélène, additional, Maisin, Anne, additional, Hamel, Christian, additional, Bieth, Eric, additional, Gie, Sophie, additional, Goodship, Judith, additional, Roussey, Gwenaelle, additional, La Selve, Hermine, additional, Nivet, Hubert, additional, Bessenay, Lucie, additional, Caillez, Mathilde, additional, Palcoux, Jean Bernard, additional, Benoît, Stéphane, additional, Dubot, Philippe, additional, Fila, Marc, additional, Giuliano, Fabienne, additional, Iftene, Daouya, additional, Kessler, Michele, additional, Kwon, Theresa, additional, Lahoche, Anine, additional, Laurent, Audrey, additional, Leclerc, Anne-Laure, additional, Milford, David, additional, Neuhaus, Thomas, additional, Odent, Sylvie, additional, Eckart, Philippe, additional, Chauveau, Dominique, additional, Niaudet, Patrick, additional, Repetto, Horacio, additional, Taque, Sophie, additional, Bruel, Alexandra, additional, Noel-Botte, Alexandra, additional, Launay, Emma Allain, additional, Allard, Lisa, additional, Anlicheau, Dany, additional, Adra, Anne-Laure, additional, Garnier, Arnaud, additional, Nagra, Arvind, additional, Baatard, Remy, additional, Bacchetta, Justine, additional, Sadikoglu, Banu, additional, Barnerias, Christine, additional, Barthelemy, Anne, additional, Basel, Lina, additional, Bassilios, Nader, additional, Ben Maiz, Hedi, additional, Ben Moussa, Fatma, additional, Benmati, Faïza, additional, Berthaud, Romain, additional, Bertholet, Aurélia, additional, Blanchier, Dominique, additional, Boffa, Jean Jacques, additional, Bouchireb, Karim, additional, Bouhabel, Ihab, additional, Boukerroucha, Zakaria, additional, Bourdat-Michel, Guylhène, additional, Boute, Odile, additional, Brochard, Karine, additional, Caumes, Roseline, additional, Elalaoui, Siham Chafai, additional, Chamontin, Bernard, additional, Chastang, Marie Caroline, additional, Pietrement, Christine, additional, Richer, Christine, additional, Legendre, Christophe, additional, Dahan, Karin, additional, Dalla-Vale, Fabienne, additional, Thibaudin, Damien, additional, Dauvergne, Maxime, additional, Davourie, Salandre, additional, Debeukelaer, Martin, additional, Delbet, Jean Daniel, additional, Deltas, Constantinos, additional, Graber, Denis, additional, Devillars, Nadège, additional, Diouf, Boucar, additional, Fenzy, Martine Doco, additional, André, Jean-Luc, additional, Joly, Dominique, additional, Fryer, Alan, additional, Albano, Laetitia, additional, Cassuto, Elisabeth, additional, Pincon, Aline, additional, Medeira, Ana, additional, Chaussenot, Annabelle, additional, Mensire-Marinier, Anne, additional, Bouissou, Francois, additional, Decramer, Stephane, additional, Bottani, Armand, additional, Hummel, Aurélie, additional, Karras, Alexandre, additional, Katz, Avi, additional, Azema, Christine, additional, Janbon, Bénédicte, additional, Roussel, Bernard, additional, Bonniol, Claude, additional, Mariat, Christiophe, additional, Champion, Gérard, additional, Chantreuil, Deborah, additional, Chassaing, Nicolas, additional, Mousson, Christiane, additional, Baudeau, Christine, additional, Cuntz, Delphine Hafdar, additional, Mignot, Cyril, additional, Dehoux, Laurene, additional, Lacombe, Didier, additional, Hannedouche, Thierry, additional, Mérieau, Elodie, additional, Charlin, Emmanuelle, additional, Gauthier, Eric, additional, Plasse, Florent, additional, Faguer, Stanislas, additional, Lebas, Fanny, additional, Demurger, Florence, additional, Emma, Francesco, additional, Cartault, François, additional, Dumont, Geneviève, additional, Godefroid, Nathalie, additional, Guigonis, Vincent, additional, Hillaire, Sophie, additional, Groothoff, Jaap, additional, Dudley, Jan, additional, Jourde-Chiche, Noémie, additional, El Karoui, Khalil, additional, Krid, Saoussen, additional, Coudert, Krier, additional, Bencheick, Larbi, additional, Yver, Laurent, additional, Lavocat, Marie-Pierre, additional, De Sagazan, Le Monies, additional, Leroy, Valerie, additional, Thibaudin, Lise, additional, Ingulli, Liz, additional, Gwanmesia, Lorraine, additional, Burglen, Lydie, additional, Saïd-Menthon, Marie-Hélène, additional, Carrera, Marta, additional, Nizon, Mathilde, additional, Melander, Catherine, additional, Foulard, Michel, additional, Blayo, Monique, additional, Prinseau, Jacques, additional, Jay, Nadine, additional, Brun, Nathalie, additional, Camille, Nicolas, additional, Nobili, François, additional, Devuyst, Olivier, additional, Ben Brahim, Ouafa, additional, Parvex, Paloma, additional, Sabourin, Laurence Perrin, additional, Blanc, Philippe, additional, Vanhille, Philippe, additional, Galichon, Pierre, additional, Pierrepont, Sophie, additional, Planquois, Vincent, additional, Poussard, Gwenaelle, additional, Noble, Claire Pouteil, additional, Allal, Radia, additional, Bernard, Raphaelle, additional, Mounet, Raynaud, additional, Cahen, Rémi, additional, Touraine, Renaud, additional, Rigothier, Claire, additional, Ryckewaert, Amélie, additional, Sacquepee, Mathieu, additional, El Chehadeh, Salima, additional, Samaille, Charlotte, additional, Haq, Shuman, additional, Simckes, Ari, additional, Lanoiselée, Stéphanie, additional, Tellier, Stephanie, additional, Subra, Jean-François, additional, Cloarec, Sylvie, additional, Tenenbam, Julie, additional, Lamy, Thomas, additional, Drouin Garraud, Valérie, additional, Valette, Huguette, additional, Meyssonnier, Vanina, additional, Vargas-Poussou, Rosa, additional, Snajer, Yves, additional, Durault, Sandrine, additional, Plaisier, Emmanuelle, additional, Berard, Etienne, additional, Fakhouri, Fadi, additional, Louillet, Ferielle, additional, Finielz, Paul, additional, Fischbach, Michel, additional, Foliguet, Bernard, additional, Francois-Pradier, Hélène, additional, Garaix, Florentine, additional, Gerard, Marion, additional, Rizzoni, Gianfranco, additional, Gilbert, Brigitte, additional, Glotz, Denis, additional, Dubrasquet, Astrid Godron, additional, Grünfeld, Jean-Pierre, additional, Bollee, Guillaume, additional, Hall, Michelle, additional, Hansson, Sverker, additional, Haye, Damien, additional, Taffin, Hélène, additional, Hildebrandt, Friedhelm, additional, Hourmand, Maryvonne, additional, Kayserili, Hümya, additional, Tack, Ivan, additional, Jacquemont, Marie Line, additional, Fabre-Teste, Jennifer, additional, Kashtan, Cliff, additional, Van Hoeck, Kkoen, additional, Klein, Alexandre, additional, Knefati, Yannick, additional, Knoers, Nine, additional, Konrad, Martin, additional, Lachaux, Alain, additional, Landru, Isabelle, additional, Landthaler, Gilbert, additional, Lang, Philippe, additional, Le Pogamp, Patrick, additional, Legris, Tristan, additional, Didailler, Catherine, additional, Lobbedez, Thierry, additional, de Parscau, Loïc, additional, Pinson, Lucile, additional, Maheut, Hervé, additional, Duval-Arnould, Marc, additional, Rio, Marlène, additional, Gubler, Marie-Claire, additional, Merville, Pierre, additional, Mestrallet, Guillaume, additional, Meunier, Maite, additional, Moreau, Karine, additional, Harambat, Jérôme, additional, Morgan, Graeme, additional, Mourad, Georges, additional, Stuber, Niksic, additional, Boespflug-Tanguy, Odile, additional, Dunand, Olivier, additional, Niel, Olivier, additional, Ouali, Nacera, additional, Malvezzi, Paolo, additional, Abou Jaoude, Pauline, additional, Pelletier, Solenne, additional, Peltier, Julie, additional, Petersen, M.B., additional, Michel, Philippe, additional, Rémy, Philippe, additional, Philit, Jean-Baptiste, additional, Pichault, Valérie, additional, Billette de Villemeur, Thierry, additional, Boudailliez, Bernard, additional, Leheup, Bruno, additional, Dossier, Claire, additional, Djeddi, Djamal-Dine, additional, Berland, Yves, additional, Hurault de Ligny, Bruno, additional, Rigden, Susan, additional, Robino, Christophe, additional, Rossi, Annick, additional, Sarnacki, Sabine, additional, Saidani, Messaoud, additional, Sartorius, Albane Brodin, additional, Schäfer, Elise, additional, Laszlo, Sztriha, additional, Thouret, Marie-Christine, additional, Thuillier-Lecouf, Angélique, additional, Trachtman, Howard, additional, Trivin, Claire, additional, Tsimaratos, Michel, additional, Van Damme-Lombaerts, Rita, additional, Willems, Marjolaine, additional, Youssef, Michel, additional, Zaloszyc, Ariane, additional, Zawodnik, Alexis, additional, and Ziliotis, Marie-Julia, additional

Published
2023
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35. Observations of a large Dent disease cohort

Author

Blanchard, Anne, Curis, Emmanuel, Guyon-Roger, Tiphaine, Kahila, Diana, Treard, Cyrielle, Baudouin, Véronique, Bérard, Etienne, Champion, Gérard, Cochat, Pierre, Dubourg, Julie, de la Faille, Renaud, Devuyst, Olivier, Deschenes, Georges, Fischbach, Michel, Harambat, Jérôme, Houillier, Pascal, Karras, Alexandre, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Loirat, Chantal, Merieau, Elodie, Niaudet, Patrick, Nobili, François, Novo, Robert, Salomon, Rémi, Ulinski, Tim, Jeunemaître, Xavier, and Vargas-Poussou, Rosa

Published
2016
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36. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

Author

Verploegen, Maartje F A, Vargas-Poussou, Rosa, Walsh, Stephen B, Alpay, Harika, Amouzegar, Atefeh, Ariceta Iraola, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A, Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J, Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A, Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J, Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B, Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R, Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, Universitat Autònoma de Barcelona, Institut Català de la Salut, [Verploegen MFA] Department of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands. [Vargas-Poussou R] Department of Genetics, Centre de Références MARHEA, Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris, Paris, France. [Walsh SB] Department of Renal Medicine, University College London, London, UK. [Alpay H] Division of Paediatric Nephrology, Faculty of Medicine, Marmara University, Istanbul, Turkey. [Amouzegar A] Division of Nephrology, Department of Medicine, Firoozgar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Perelló M] Servei de Nefrologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, Verploegen M. F. A., Vargas-Poussou R., Walsh S. B., ALPAY H., Amouzegar A., Ariceta G., ATMIŞ B., Bacchetta J., Barany P., Baron S., et al., Verploegen, Maartje F A, Vargas-Poussou, Rosa, Walsh, Stephen B, Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A, Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J, Houillier, Pascal, Kamperis, Konstantino, Kari, Jameela A, Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J, Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B, Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R, Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, and UCL - SSS/IREC/NEFR - Pôle de Néphrologie

Subjects
Internal Diseases, Hormones, Hormone Substitutes, and Hormone Antagonists::Hormones::Peptide Hormones::Parathyroid Hormone [CHEMICALS AND DRUGS], Homeòstasi, urologic and male genital diseases, Sağlık Bilimleri, İç Hastalıkları, Clinical Medicine (MED), Bartter syndomr, Transplantasyon, Gitelman Syndrome/complications, salt losing tubulopathies, Homeostasis, HYPERCALCIURIA, Klinik Tıp (MED), Child, enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::defectos congénitos del transporte tubular renal::síndrome de Gitelman [ENFERMEDADES], Klinik Tıp, Hyperparathyroidism, Tıp, Nefroloji, fenómenos fisiológicos::homeostasis [FENÓMENOS Y PROCESOS], Nephrology, Üroloji, Medicine, Gitelman syndrome, Ronyons - Malalties - Malformacions, Urology, CALCIUM, Phosphates, UROLOGY & NEPHROLOGY, Health Sciences, Humans, parathyroid hormone, HYPERPARATHYROIDISM, ÜROLOJİ VE NEFROLOJİ, hormonas, sustitutos de hormonas y antagonistas de hormonas::hormonas::hormonas peptídicas::hormona paratiroidea [COMPUESTOS QUÍMICOS Y DROGAS], phosphate, Transplantation, Internal Medicine Sciences, Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Tubular Transport, Inborn Errors::Bartter Syndrome [DISEASES], Dahili Tıp Bilimleri, Hormones peptídiques, CLINICAL MEDICINE, GENE, Bartter syndrome, Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Tubular Transport, Inborn Errors::Gitelman Syndrome [DISEASES], Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Cross-Sectional Studies, Calcium, Bartter Syndrome/complications, Physiological Phenomena::Homeostasis [PHENOMENA AND PROCESSES], enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::defectos congénitos del transporte tubular renal::síndrome de Bartter [ENFERMEDADES]
Abstract

European Reference Network for Rare Kidney Diseases (ERKNet) - European Union; Dutch Kidney Foundation [19OI06], Verploegen MFA, Vargas-Poussou R, Walsh SB, Alpay H, Amouzegar A, Ariceta G, Atmis B, Bacchetta J, Bárány P, Baron S, Bayrakci US, Belge H, Besouw M, Blanchard A, Bökenkamp A, Boyer O, Burgmaier K, Calò LA, Decramer S, Devuyst O, van Dyck M, Ferraro PM, Fila M, Francisco T, Ghiggeri GM, Gondra L, Guarino S, Hooman N, Hoorn EJ, Houillier P, Kamperis K, Kari JA, Konrad M, Levtchenko E, Lucchetti L, Lugani F, Marzuillo P, Mohidin B, Neuhaus TJ, Osman A, Papizh S, Perelló M, Rookmaaker MB, Conti VS, Santos F, Sawaf G, Serdaroglu E, Szczepanska M, Taroni F, Topaloglu R, Trepiccione F, Vidal E, Wan ER, Weber L, Yildirim ZY, Yüksel S, Zlatanova G, Bockenhauer D, Emma F, Nijenhuis T

Published
2022
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39. p.Ala541Thr variant of MEN1 gene: A non deleterious polymorphism or a pathogenic mutation?

Author

Nozières, Cecile, Zhang, Chang-Xian, Buffet, Alexandre, Dupasquier, Stéphanie, Vargas-Poussou, Rosa, Guillaud-Bataille, Marine, Cordier-Bussat, Martine, Ruszniewski, Philippe, Christin-Maitre, Sophie, Murat, Arnaud, Groussin, Lionel, Vezzosi, Delphine, Cardot-Bauters, Catherine, Hervieu, Valérie, Joly, Marie-Odile, Giraud, Sophie, Odou, Marie-Françoise, Gimenez-Roqueplo, Anne-Paule, Goudet, Pierre, Borson-Chazot, Françoise, and Calender, Alain

Published
2014
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40. Acidosis tubular renal distal autosómica dominante en dos pacientes pediátricos con mutaciones en el gen SLC4A1. ¿La prueba de la pCO2 urinaria máxima puede ser normal?

Author

Guerra Hernández, Norma E., Gómez Tenorio, Circe, Méndez Silva, Laura Paloma, Moraleda Mesa, Teresa, Escobar, Laura I., Salvador, Carolina, Vargas Poussou, Rosa, and García Nieto, Victor M.

Abstract

Copyright of Nefrologia is the property of Revista Nefrologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2023
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41. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

Author

MS Nefrologie, Regenerative Medicine and Stem Cells, Verploegen, Maartje F.A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A., Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, MS Nefrologie, Regenerative Medicine and Stem Cells, Verploegen, Maartje F.A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A., Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, and Nijenhuis, Tom

Published
2022

42. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome:an international cross-sectional study

Author

Verploegen, Maartje F.A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A., Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, Verploegen, Maartje F.A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A., Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, and Nijenhuis, Tom

Abstract

Background:Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. Methods:Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Paediatric Nephrology (ESPN). Results:A total of 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I and II had the highest median PTH level (7.5 pmol/L) and 56% had hyperparathyroidism (PTH >7.0 pmol/L). Serum calcium was slightly lower in Bartter syndrome type I and II patients with hyperparathyroidism (2.42 versus 2.49 mmol/L; P = .038) compared to those with normal PTH levels and correlated inversely with PTH (rs −0.253; P = .009). Serum phosphate and urinary phosphate excretion did not correlate with PTH. Overall, 22% of patients had low serum phosphate levels (phosphate—standard deviation score < −2), with the highest prevalence in patients with Bartter syndrome type III (32%). Serum phosphate correlated with tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) (rs 0.699; P < .001), suggesting renal phosphate wasting. Conclusions:Hyperparathyroidism is frequent in patients with Bartter syndrome type I and II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting.

Published
2022

43. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.

Author

UCL - (SLuc) Centre du cancer, UCL - (MGD) Service de néphrologie, Knoers, Nine, Antignac, Corinne, Bergmann, Carsten, Dahan, Karin, Giglio, Sabrina, Heidet, Laurence, Lipska-Ziętkiewicz, Beata S, Noris, Marina, Remuzzi, Giuseppe, Vargas-Poussou, Rosa, Schaefer, Franz, UCL - (SLuc) Centre du cancer, UCL - (MGD) Service de néphrologie, Knoers, Nine, Antignac, Corinne, Bergmann, Carsten, Dahan, Karin, Giglio, Sabrina, Heidet, Laurence, Lipska-Ziętkiewicz, Beata S, Noris, Marina, Remuzzi, Giuseppe, Vargas-Poussou, Rosa, and Schaefer, Franz

Abstract

The overall diagnostic yield of massively parallel sequencing-based tests in patients with chronic kidney disease (CKD) is 30% for paediatric cases and 6-30% for adult cases. These figures should encourage nephrologists to frequently use genetic testing as a diagnostic means for their patients. However, in reality, several barriers appear to hinder the implementation of massively parallel sequencing-based diagnostics in routine clinical practice. In this article we aim to support the nephrologist to overcome these barriers. After a detailed discussion of the general items that are important to genetic testing in nephrology, namely genetic testing modalities and their indications, clinical information needed for high-quality interpretation of genetic tests, the clinical benefit of genetic testing and genetic counselling, we describe each of these items more specifically for the different groups of genetic kidney diseases and for CKD of unknown origin.

Published
2022

44. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

Author

Verploegen, Maartje F. A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Barany, Peter, Baron, Stephanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bokenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calo, Lorenzo A., Decramer, Stephane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perello, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yuksel, Selcuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, Verploegen, Maartje F. A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Barany, Peter, Baron, Stephanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bokenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calo, Lorenzo A., Decramer, Stephane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perello, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yuksel, Selcuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, and Nijenhuis, Tom

Abstract

Background Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. Methods Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Paediatric Nephrology (ESPN). Results A total of 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I and II had the highest median PTH level (7.5 pmol/L) and 56% had hyperparathyroidism (PTH >7.0 pmol/L). Serum calcium was slightly lower in Bartter syndrome type I and II patients with hyperparathyroidism (2.42 versus 2.49 mmol/L; P = .038) compared to those with normal PTH levels and correlated inversely with PTH (r(s) -0.253; P = .009). Serum phosphate and urinary phosphate excretion did not correlate with PTH. Overall, 22% of patients had low serum phosphate levels (phosphate-standard deviation score < -2), with the highest prevalence in patients with Bartter syndrome type III (32%). Serum phosphate correlated with tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) (r(s) 0.699; P < .001), suggesting renal phosphate wasting. Conclusions Hyperparathyroidism is frequent in patients with Bartter syndrome type I and II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting.

Published
2022

45. Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA

Author

Genetica Klinische Genetica, Child Health, Cancer, Viering, Daan, Schlingmann, Karl-Peter, Hureaux, Marguerite, Nijenhuis, Tom, Mallett, Andrew, Chan, Melanie, van Beek, Andre, van Eerde, Albertien, Coulibaly, Jean-Marie, Vallet, Marion, Decramer, Stéphane, Pelletier, Solenne, Klaus, Günter, Kömhoff, Martin, Beetz, Rolf, Patel, Chirag, Shenoy, Mohan, Steenbergen, Eric, Anderson, Glenn, Bongers, Ernie, Bergmann, Carsten, Panneman, Daan, Rodenburg, Richard, Kleta, Robert, Houillier, Pascal, Konrad, Martin, Vargas-Poussou, Rosa, Bockenhauer, Detlef, de Baaij, Jeroen, Genetica Klinische Genetica, Child Health, Cancer, Viering, Daan, Schlingmann, Karl-Peter, Hureaux, Marguerite, Nijenhuis, Tom, Mallett, Andrew, Chan, Melanie, van Beek, Andre, van Eerde, Albertien, Coulibaly, Jean-Marie, Vallet, Marion, Decramer, Stéphane, Pelletier, Solenne, Klaus, Günter, Kömhoff, Martin, Beetz, Rolf, Patel, Chirag, Shenoy, Mohan, Steenbergen, Eric, Anderson, Glenn, Bongers, Ernie, Bergmann, Carsten, Panneman, Daan, Rodenburg, Richard, Kleta, Robert, Houillier, Pascal, Konrad, Martin, Vargas-Poussou, Rosa, Bockenhauer, Detlef, and de Baaij, Jeroen

Published
2022

46. Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Author

Seys, Elsa, Andrini, Olga, Keck, Mathilde, Mansour-Hendili, Lamisse, Courand, Pierre-Yves, Simian, Christophe, Deschenes, Georges, Kwon, Theresa, Bertholet-Thomas, Aurélia, Bobrie, Guillaume, Borde, Jean Sébastien, Bourdat-Michel, Guylhène, Decramer, Stéphane, Cailliez, Mathilde, Krug, Pauline, Cozette, Paul, Delbet, Jean Daniel, Dubourg, Laurence, Chaveau, Dominique, Fila, Marc, Jourde-Chiche, Noémie, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Djeddi, Djamal, Llanas, Brigitte, Louillet, Ferielle, Merieau, Elodie, Mileva, Maria, Mota-Vieira, Luisa, Mousson, Christiane, Nobili, François, Novo, Robert, Roussey-Kesler, Gwenaëlle, Vrillon, Isabelle, Walsh, Stephen B., Teulon, Jacques, Blanchard, Anne, and Vargas-Poussou, Rosa

Published
2017
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47. Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations

Author

Yamaguti, Paulo Marcio, Neves, Francisco de Assis Rocha, Hotton, Dominique, Bardet, Claire, de La Dure-Molla, Muriel, Castro, Luiz Claudio, Scher, Maria do Carmo, Barbosa, Maristela Estevão, Ditsch, Christophe, Fricain, Jean-Christophe, de La Faille, Renaud, Figueres, Marie-Lucile, Vargas-Poussou, Rosa, Houiller, Pascal, Chaussain, Catherine, Babajko, Sylvie, Berdal, Ariane, Acevedo, Ana Carolina, Hou, J, Klein, C, and Jedeon, K

Published
2017
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49. Treatment and long-term outcome in primary distal renal tubular acidosis

Author

Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B, Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A, Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane, Gil-Pena, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A, Koenig, Jens, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J, Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J, Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan, Mohebbi, Nilufar, Çukurova Üniversitesi, Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B, Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurélia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A, Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stéphane, Gil-Peña, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yüksel, Selçuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A, König, Jen, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wühl, Elke, Ağbaş, Ayşe, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pınarbaşı, Ayşe Seda, Melek, Engin, Miglinas, Mariu, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef, and Internal Medicine

Subjects
Male, glomerulus filtration rate, ATP6V1B1 protein, human, DNA Mutational Analysis, kidney calcification, distal renal tubular acidosis, Sensorineural, nephrocalcinosi, ATP6V1B1 gene, Renal tubular acidosis, 0302 clinical medicine, newborn, Chronic kidney disease, middle aged, Medicine, genetics, Young adult, Child, adult, cohort analysis, perception deafness, Sensorineural hearing loss, aged, Nephrocalcinosis, priority journal, Nephrology, Child, Preschool, Cohort, Acidosis, mutational analysis, Vacuolar Proton-Translocating ATPases, medicine.medical_specialty, Hearing Loss, Sensorineural, rare disease, Renal function, bicarbonate, complication, Article, 03 medical and health sciences, nephrocalcinosis, Humans, human, gross national product, Hearing Loss, Aged, Infant, economic aspect, Distal renal tubular acidosis, medicine.disease, major clinical study, proton transporting adenosine triphosphate synthase, Mutation, nephrolithiasis, estimated glomerular filtration rate, chronic kidney disease, SLC4A1 gene, 030232 urology & nephrology, Deafness, 030204 cardiovascular system & hematology, preschool child, sensorineural hearing loss, nephrolithiasi, Cohort Studies, distal renal tubular acidosi, Interquartile range, kidney tubule acidosis, gene mutation, kidney function, Acidosis, Renal Tubular, chronic kidney failure, Middle Aged, urine, female, genetic association study, medical care, body height, young adult, Female, Renal Tubular, Glomerular Filtration Rate, onset age, Adult, Adolescent, prevalence, Nephrolithiasis, Young Adult, Rare Diseases, primary distal renal tubular acidosis, blood, Internal medicine, follow up, gene, Preschool, outcome assessment, Genetic Association Studies, Transplantation, calcium, business.industry, Infant, Newborn, hearing impairment, Newborn, Bicarbonates, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Calcium, metabolic regulation, business, Kidney disease
Abstract

PubMedID: 30773598 Background. Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-Termoutcome. Methods. We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. Results. Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (61.16). There was an increased prevalence of chronic kidney disease (CKD) Stage -2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. Conclusion. Long-Term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients. © The Author(s) 2018. Erciyes Üniversitesi Iran University of Medical Sciences Università degli Studi di Padova Chung Hua University American Ornithologists' Union University of Queensland 7Centre University College London Aristotle University of Thessaloniki Lunds Universitet Cairo University National Rosacea Society Heart of England NHS Foundation Trust Centre hospitalier universitaire Sainte-Justine Erasmus Universiteit Rotterdam Aristotle University of Thessaloniki 1Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK, 2Centre for Nephrology, University College London, London, UK, 3Division of Nephrology, Bambino Gesù Children’s Hospital—IRCCS, Rome, Italy, 4Pediatric Nephrology—CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France, 5Ali-Asghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran, 6Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland, 7Centre de référence Maladies rénales rares, Bron, France, 8ASST Niguarda, Milan, Italy, 9Department of Pediatrics, University Hospital of Cologne, Cologne, Germany, 10University Hospital Leuven, Leuven, Belgium, 11King Edward Memorial Hospital, Pune, India, 12Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt, 13Hospital Universitario Vall d’Hebron, Barcelona, Spain, 14Division of Pediatric Nephrology, NRS Medical College, Kolkata, India, 15Pediatric Nephrology, Dialysis and Transplant Unit, Azienda Ospedaliera & University of Padova, Padova, Italy, 16University Children’s Hospital, Medical School, Skopje, Macedonia, 17National Medical and Research Centre for Children’s Health, Moscow, Russia, 18Centre Hospitalier Universitaire de Toulouse, Service de Nephrologie Pediatrique, Hopital des Enfants, Centre De Reference des Maladies Rénales Rares du Sud Ouest, Toulouse, France, 19Hospital Universitario Central de Asturias, Oviedo, Spain, 20Radboud University Medical Centre, Nijmegen, The Netherlands, 21Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero—Universitaria Sant’Orsola-Malpighi, Bologna, Italy, 22Charité Universitätsmedizin Berlin, Berlin, Germany, 23University Children’s Hospital, Münster, Germany, 24Wilhelmina Children’s Hospital, University Medical Center, Utrecht, The Netherlands, 25Centro Hospitalar de Lisboa Central, Lisbon, Portugal, 26Fourth Pediatric Department, Aristotle University, Thessaloniki, Greece, 27Lady Cilento Children’s Hospital, Brisbane, Australia, 28School of Medicine, the University of Queensland, Brisbane, Australia, 29Department of Pediatric Nephrology, Pamukkale University School of Medicine, Denizli, Turkey, 30Nephrology Unit Azienda Ospedaliera, Papa Giovani XXIII, Bergamo, Italy, 31Karolinska Institutet, Lund University,Sweden,GroupFlorenceNightingaleHospitals,Ist32· anbul, Turkey,Fondazione Policlinico A. Gemelli, Universita` Cattolica del33 Sacro Cuore, Rome, Italy, 34Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia, 35Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca’ Granda—Ospedale Maggiore Policlinico, Milan, Italy, 36Department of Translational Medical Sciences, University of Campania “L. Vanvitelli”, Naples, Italy, 37Pediatric Department, Lillebaelt Hospital Kolding, Kolding, Denmark, 38Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany, 39Haseki Education and Research Hospital, Istanbul, Turkey, 40Belarusian State Medical University, Minsk, Belarus, 41Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France, 42Pediatric Nephrology Unit, AOU Policlinic G Martino, Messina, Italy, 43Necker Hospital, Paris, France, 44Faculty of Medicine, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey, 45Cukurova University, Adana, Turkey, 46Nephrology Centre, Santaros Klinikos, Vilnius University, Vilnius, Lithuania, 47University Hospital of Lille, France, 48Department of Renal Medicine, Royal Brisbane and Women’s Hospital, Brisbane, Australia, 49University Hospital Centre Zagreb, Zagreb, Croatia, 50Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland, 51Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany, The European dRTA Consortium consists of the authors, as well as: Amira Peco-Antic(Department of Nephrology, University Children’s Hospital, Belgrade, Serbia), Amrit Kaur (Department of Paediatric Nephrology, Royal Manchester Children’s Hospital, Manchester, UK), Antonino Paglialunga (ASP de Ragusa, Modica, Italy), Aude Servais (Department of Nephrology, Centre Hospitalier Universitaire Necker, APHP, Paris, France), Branko Lutovac (Clinical Centre of Montenegro, Institute for Children’s Disease, Podgorica, Montenegro), Ewout J. Hoorn (Erasmus Medical Center, Rotterdam, The Netherlands), Hadas Shasha-Lavsky (Galilee Medical Center, Nahariya, Israel), Jerome Harambat (Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France), Astrid Godron-Dubrasquet (Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France), Kathrin Buder (Pediatric Department, University Hospital, Carl Gustav Carus Dresden, Dresden, Germany), Lise Allard (Department of Pediatrics, Angers University Hospital, Angers, France), Ludwig Patzer (Children’s Hospital St Elisabeth and St Barbara, Halle, Germany), Marina Shumikhina (Filatov Children’s Clinical Hospital No. 13, Moscow, Russia), Matthias Hansen (KfH Centre of Paediatric Nephrology, Clementine Children’s Hospital, Frankfurt, Germany), Nikoleta Printza (First Pediatric Department, Aristotle University, Thessaloniki, Greece), Nuran Küc¸ük (Kartal Dr. Lütfi Kırdar Training and Research Hospital, İstanbul, Turkey), Ortraud Beringer (University Children’s Hospital, Ulm, Germany), Rajendra Bhimma (Inkosi Albert Luthuli, Central Hospital, Durban, South Africa), Rimante Cerkauskiene (Faculty of Medicine, Children’s Hospital, Vilnius University, Vilnius, Lithuania; Santaros Klinikos, Vilnius University Hospital, Vilnius, Lithuania), Thomas J. Neuhaus (Children’s Hospital of Lucerne, Cantonal Hospital of Lucerne, Lucerne, Switzerland), Valbona Stavileci (Pediatric Clinic, Prishtina, Kosovo), Tim Ulinski (Pediatric Nephrology Department, Armand Trousseau University Hospital, APHP, Paris, France), Nida Temizkan Dincel (Health Sciences University, Izmir Dr Behcet Uz Children’s Hospital, İzmir, Turkey) and Nilufar Mohebbi (Division of Nephrology, University Hospital Zurich, Zurich, Switzerland)

Published
2019
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50. Possible role for rareTRPM7variants in patients with hypomagnesaemia with secondary hypocalcaemia

Author

Vargas-Poussou, Rosa, primary, Claverie-Martin, Felix, additional, Prot-Bertoye, Caroline, additional, Carotti, Valentina, additional, van der Wijst, Jenny, additional, Perdomo-Ramirez, Ana, additional, Fraga-Rodriguez, Gloria M, additional, Hureaux, Marguerite, additional, Bos, Caro, additional, Latta, Femke, additional, Houillier, Pascal, additional, Hoenderop, Joost G J, additional, and de Baaij, Jeroen H F, additional

Published
2022
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