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59 results on '"Ziagaki A"'

51. Personality Traits and Physical Complaints in Patients With Acromegaly: A Cross Sectional Multi-Center Study With Analysis of Influencing Factors

Author

Zimmermann, Anca, primary, Zwerenz, Rüdiger, additional, Droste, Michael, additional, Schöfl, Christof, additional, Strasburger, Christian J., additional, Plöckinger, Ursula, additional, Ziagaki, Athanasia, additional, Honegger, Jürgen, additional, Dixius, Anne, additional, Millaku, Bledar, additional, Toenges, Gerrit, additional, Beutel, Manfred E., additional, and Weber, Matthias M., additional

Published
2018
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52. Prevention Medicine in Bilateral Phaeochromocytoma

Author

Tsoy, Uliana, primary, Amodru, Vincent, additional, Walz, Martin K., additional, Bancos, Irina, additional, Jeet, Ravinder Kaur, additional, Qi, Xiaoping, additional, Bandgar, Tushar, additional, Jaiswal, Sanjeet Kumar, additional, Petrov, Roman, additional, Roslyakova, Anna, additional, Yukina, Marina Y., additional, Horst-Schrivers, Anouk N. A. van der, additional, Berends, Annika M.A., additional, Hoff, Ana O., additional, Castroneves, Luciana Audi, additional, Ferrara, Alfonso Massimiliano, additional, Rizzati, Silvia, additional, Mian, Caterina, additional, Dvorakova, Sarka, additional, Hasse-Lazar, Kornelia, additional, Kvachenyuk, Andrey, additional, Peczkowska, Mariola, additional, Loli, Paola, additional, Erenler, Feyza, additional, Zschiedrich, Stefan, additional, Krauss, Tobias, additional, Almeida, Madson Q., additional, Fragoso, Maria C. B. V., additional, Pereira, Maria A. A., additional, Liu, Longfei, additional, Li, Minghao, additional, Zhu, Feizhou, additional, Recasens, Mònica, additional, Costa, Josefina Biarnes, additional, Wohllk, Nelson, additional, Corssmit, Eleonora, additional, Shafigullina, Zulfiya, additional, Callissendorff, Jan, additional, Juhlin, Carl Christofer, additional, Grozinsky-Glasberg, Simona, additional, Gross, David, additional, Kunavisarut, Tada, additional, Violante, Alice H. D., additional, Kocjan, Tomaz, additional, Ngeow, Joanne, additional, Yoel, Uri, additional, Fraenkel, Merav, additional, Simsir, Ilgin Yildirim, additional, Ugurlu, Umit, additional, Ziagaki, Athanasia, additional, Schalin-Jäntti, Camilla, additional, Díaz, Luis Robles, additional, Kudlai, Inna Stepanovna, additional, Gimm, Oliver, additional, Scherbaum, Christina Rebecca, additional, Barbon, Giovanni, additional, Taschin, Elisa, additional, Malinoc, Angelica, additional, Khudiakova, Natalia Valeryevna, additional, Ivanov, Nikita V., additional, Castinetti, Frederic, additional, Pfeifer, Marija, additional, Beltsevich, Dmitry, additional, Egorov, Viacheslav I., additional, Zovato, Stefania, additional, Ploeckinger, Ursula, additional, Makay, Özer, additional, Grineva, Elena, additional, Schiavi, Francesca, additional, Jarzab, Barbara, additional, Januszewicz, Andrzej, additional, Opocher, Giuseppe, additional, Shah, Nalini, additional, Seufert, Jochen, additional, Links, Thera P., additional, Larsson, Catharina, additional, Lechan, Ronald M., additional, Bausch, Birke, additional, Young, William F., additional, Eng, Charis, additional, and Neumann, Hartmut P. H., additional

Published
2018
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53. Pulmonale Fibrose: eine diabetische Spätkomplikation

Author

Peter P. Nawroth, H Katus, J Szendrödi, Michael Roden, Thomas Fleming, A Ziagaki, Stefan Kopf, HU Häring, Stephan Herzig, JB Gröner, and J Friedrich

Subjects
0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, business.industry, Endocrinology, Diabetes and Metabolism, Medicine, 030209 endocrinology & metabolism, business
Published
2016

54. Pulmonale Fibrose: eine diabetische Spätkomplikation

Author

Kopf, S, primary, Ziagaki, A, additional, Gröner, J, additional, Friedrich, J, additional, Szendrödi, J, additional, Fleming, T, additional, Herzig, S, additional, Katus, H, additional, Häring, HU, additional, Roden, M, additional, and Nawroth, P, additional

Published
2016
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58. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Author

Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, and Kölker S

Subjects
Humans, Glutaryl-CoA Dehydrogenase, Lysine metabolism, Glutarates metabolism, Brain Diseases, Metabolic diagnosis, Brain Diseases, Metabolic genetics, Brain Diseases, Metabolic therapy, Amino Acid Metabolism, Inborn Errors diagnosis, Amino Acid Metabolism, Inborn Errors genetics, Amino Acid Metabolism, Inborn Errors therapy
Abstract

Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined. Most untreated individuals present with acute onset of striatal damage before age 3 (to 6) years, precipitated by infectious diseases, fever or surgery, resulting in irreversible, mostly dystonic movement disorder with limited life expectancy. In some patients, striatal damage develops insidiously. In recent years, the clinical phenotype has been extended by the finding of extrastriatal abnormalities and cognitive dysfunction, preferably in the high excreter group, as well as chronic kidney failure. Newborn screening is the prerequisite for pre-symptomatic start of metabolic treatment with low lysine diet, carnitine supplementation and intensified emergency treatment during catabolic episodes, which, in combination, have substantially improved neurologic outcome. In contrast, start of treatment after onset of symptoms cannot reverse existing motor dysfunction caused by striatal damage. Dietary treatment can be relaxed after the vulnerable period for striatal damage, that is, age 6 years. However, impact of dietary relaxation on long-term outcomes is still unclear. This third revision of evidence-based recommendations aims to re-evaluate previous recommendations (Boy et al., J Inherit Metab Dis, 2017;40(1):75-101; Kolker et al., J Inherit Metab Dis 2011;34(3):677-694; Kolker et al., J Inherit Metab Dis, 2007;30(1):5-22) and to implement new research findings on the evolving phenotypic diversity as well as the impact of non-interventional variables and treatment quality on clinical outcomes., (© 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)

Published
2023
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