Search

Your search keyword '"Ficicioglu, Can"' showing total 497 results
Start Over Author "Ficicioglu, Can"
497 results on '"Ficicioglu, Can"'

1. Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders

Author

Schulze, Andreas, Ficicioglu, Can, Harding, Cary O., Lam, Christina, Coughlin, Curtis R., 2nd, Wong, Derek, Diaz, George A., Berry, Gerard T., Enns, Gregory M., Wilkening, Greta, Seminara, Jennifer, Konczal, Laura, Lawrence Merritt, J., 2nd, Burrage, Lindsay C., Breilyn, Margo, Baumgartner, Matthias R., Mew, Nicholas Ah., Gallagher, Renata C., McCandless, Shawn E., Berry, Susan A., Stricker, Tamar, Zielonka, Matthias, Kölker, Stefan, Garbade, Sven F., Gleich, Florian, Nagamani, Sandesh C.S., Gropman, Andrea L., Druck, Ann-Catrin, Ramdhouni, Nesrine, Göde, Laura, Hoffmann, Georg F., and Posset, Roland

Published
2024
Full Text
View/download PDF

2. Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

Author

Guffon, Nathalie, Burton, Barbara K., Ficicioglu, Can, Magner, Martin, Gil-Campos, Mercedes, Lopez-Rodriguez, Monica A., Jayakar, Parul, Lund, Allan M., Tal, Galit, Garcia-Ortiz, Jose Elias, Stepien, Karolina M., Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara S., Hennermann, Julia B., Lampe, Christina, McNutt, Markey, Lagler, Florian B., Scarpa, Maurizio, Sutton, V. Reid, and Muschol, Nicole

Published
2024
Full Text
View/download PDF

3. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Author

Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., 2nd, Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta, Wagenmakers, Margreet, Wijburg, Frits A., Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, and Zielonka, Matthias

Published
2024
Full Text
View/download PDF

4. Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

Author

Schulze, Andreas, García-Cazorla, Angeles, Ficicioglu, Can, Harding, Cary O., Lam, Christina, Coughlin, Curtis R., 2<ce:sup loc='post">nd</ce:sup>, Le Mons, Cynthia, Wong, Derek, Dobbelaere, Dries, Diaz, George A., Berry, Gerard T., Enns, Gregory M., Wilkening, Greta, Lawrence Merritt, J., 2<ce:sup loc='post">nd</ce:sup>, Seminara, Jennifer, Konczal, Laura, Burrage, Lindsay C., Breilyn, Margo, Lindner, Martin, Baumgartner, Matthias R., Mew, Nicholas Ah., Gallagher, Renata C., McCandless, Shawn E., Berry, Susan A., Stricker, Tamar, Posset, Roland, Garbade, Sven F., Gleich, Florian, Nagamani, Sandesh C.S., Gropman, Andrea L., Epp, Friederike, Ramdhouni, Nesrine, Druck, Ann-Catrin, Hoffmann, Georg F., Kölker, Stefan, and Zielonka, Matthias

Published
2024
Full Text
View/download PDF

5. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

Author

Farmer, Cristan A., Kaat, Aaron J., Thurm, Audrey, Anselm, Irina, Akshoomoff, Natacha, Bennett, Amanda, Berry, Leandra, Bruchey, Aleksandra, Barshop, Bruce A., Berry-Kravis, Elizabeth, Bianconi, Simona, Cecil, Kim M., Davis, Robert J., Ficicioglu, Can, Porter, Forbes D., Wainer, Allison, Goin-Kochel, Robin P., Leonczyk, Caroline, Guthrie, Whitney, Koeberl, Dwight, Love-Nichols, Jamie, Mamak, Eva, Mercimek-Andrews, Saadet, Thomas, Rebecca P., Spiridigliozzi, Gail A., Sullivan, Nancy, Sutton, Vernon R., Udhnani, Manisha D., Waisbren, Susan E., and Miller, Judith S.

Abstract

Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity to change. Norm-referenced scores often decrease over time among people with neurodevelopmental disorders who exhibit slower-than-average increases in ability. Further, the reliability of norm-referenced scores is lower at the tails of the distribution, resulting in floor effects and increased measurement error for people with neurodevelopmental disorders. In contrast, the person ability scores generated during the process of constructing a standardized test with item response theory are designed to assess change. We illustrate these limitations of norm-referenced scores, and relative advantages of ability scores, using data from studies of autism spectrum disorder and creatine transporter deficiency.

Published
2020
Full Text
View/download PDF

6. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

Author

Oussalah, Abderrahim, Siblini, Youssef, Hergalant, Sébastien, Chéry, Céline, Rouyer, Pierre, Cavicchi, Catia, Guerrini, Renzo, Morange, Pierre-Emmanuel, Trégouët, David, Pupavac, Mihaela, Watkins, David, Pastinen, Tomi, Chung, Wendy K., Ficicioglu, Can, Feillet, François, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Majewski, Jacek, Morrone, Amelia, Rosenblatt, David S., and Guéant, Jean-Louis

Published
2022
Full Text
View/download PDF

7. Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG.

Author

Pajusalu, Sander, Vals, Mari-Anne, Serrano, Mercedes, Witters, Peter, Cechova, Anna, Honzik, Tomáš, Edmondson, Andrew C., Ficicioglu, Can, Barone, Rita, De Lonlay, Pascale, Bérat, Claire-Marine, Vuillaumier-Barrot, Sandrine, Lam, Christina, Patterson, Marc C., Janssen, Mirian C. H., Martins, Esmeralda, Quelhas, Dulce, Sykut-Cegielska, Jolanta, Mousa, Jehan, and Urreizti, Roser

Abstract

We report on the largest single dataset of patients with PMM2‐CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studies, report on novel findings, and, additionally, examine potential genotype/phenotype correlations. A total of 137 participants had complete genotype information, representing 60 unique variants, of which the most common were found to be p.Arg141His in 58.4% (n = 80) of participants, followed by p.Pro113Leu (21.2%, n = 29), and p.Phe119Leu (12.4%, n = 17), consistent with previous studies. Interestingly, six new variants were reported, comprised of five missense variants (p.Pro20Leu, p.Tyr64Ser, p.Phe68Cys, p.Tyr76His, and p.Arg238His) and one frameshift (c.696del p.Ala233Argfs∗100). Patient phenotypes were characterized via the Nijmegen Progression CDG Rating Scale (NPCRS), together with biochemical parameters, the most consistently dysregulated of which were coagulation factors, specifically antithrombin (below normal in 79.5%, 93 of 117), in addition to Factor XI and protein C activity. Patient genotypes were classified based upon the predicted pathogenetic mechanism of disease‐associated mutations, of which most were found in the catalysis/activation, folding, or dimerization regions of the PMM2 enzyme. Two different approaches were used to uncover genotype/phenotype relationships. The first characterized genotype only by the predicted pathogenic mechanisms and uncovered associated changes in biochemical parameters, not apparent using only NPCRS, involving catalysis/activation, dimerization, folding, and no protein variants. The second approach characterized genotype by the predicted pathogenic mechanism and/or individual variants when paired with a subset of severe nonfunctioning variants and uncovered correlations with both NPCRS and biochemical parameters, demonstrating that p.Cys241Ser was associated with milder disease, while p.Val231Met, dimerization, and folding variants with more severe disease. Although determining comprehensive genotype/phenotype relationships has previously proven challenging for PMM2‐CDG, the larger sample size, plus inclusion of biochemical parameters in the current study, has provided new insights into the interplay of genetics with disease. Trial Registration:NCT03173300. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

8. Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Author

Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J, Jego, Virginie, and Parini, Rossella

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Adolescent, Age of Onset, Biological Variation, Individual, Child, Child, Preschool, Family, Humans, Male, Mucopolysaccharidosis II, Phenotype, Registries, Siblings, Surveys and Questionnaires, Symptom Assessment, clinical heterogeneity, Hunter syndrome, idursulfase, lysosomal storage disease, siblings, Genetics, Clinical sciences
Abstract

Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data from patients enrolled in the Hunter Outcome Survey (HOS) were used to investigate intrafamilial variability in male siblings with MPS II. As of July 2015, data were available for 78 patients aged ≥5 years at last visit who had at least one affected sibling (39 sibling pairs). These patients were followed prospectively (i.e., they were alive at enrollment in HOS). The median age at the onset of signs and symptoms was the same for the elder and younger brothers (2.0 years); however, the younger brothers were typically diagnosed at a younger age than the elder brothers (median age, 2.5 and 5.1 years, respectively). Of the 39 pairs, eight pairs were classified as being discordant (the status of four or more signs and symptoms differed between the siblings); 21 pairs had one, two, or three signs and symptoms that differed between the siblings, and 10 pairs had none. Regression status of the majority of the developmental milestones studied was generally concordant among siblings. Functional classification, a measure of central nervous system involvement, was the same in 24/28 pairs, although four pairs were considered discordant as functional classification differed between the siblings. Overall, this analysis revealed similarity in the clinical manifestations of MPS II among siblings. This information should help to improve our understanding of the clinical presentation of the disease, including phenotype prediction in affected family members.

Published
2018

10. Characteristics and management of US pediatric patients with Gaucher disease from the Gaucher Outcome Survey

Author

Goker-Alpan, Ozlem, primary, Burrow, Andrew, additional, Enns, Gregory M., additional, Ficicioglu, Can, additional, Kishnani, Priya S., additional, Ortiz, Damara, additional, Prada, Carlos E., additional, Vats, Divya, additional, Weinreb, Neal J., additional, Robinson, Ian, additional, Pathak, Ravi R., additional, Wright, Ekaterina, additional, Botha, Jaco, additional, and Wilcox, William R., additional

Published
2024
Full Text
View/download PDF

11. CAMPSIITE™ phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)

Author

Harmatz, Paul, primary, Ficicioglu, Can, additional, Giugliani, Roberto, additional, Rajan, Deepa, additional, Hagood, Joseph, additional, Fiscella, Michele, additional, Yang, Lin, additional, Gilmor, Michelle, additional, Cho, Yoonjin, additional, Mulatya, Caroline, additional, Phillips, Dawn, additional, Boulos, Nidal, additional, Falabella, Paulo, additional, and Pisani, Laura, additional

Published
2024
Full Text
View/download PDF

13. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Author

Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Wagenmakers, Margreet, Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, and Wagenmakers, Margreet

Abstract

Purpose: Liver transplantation (LTx) is performed in individuals with urea cycle disorders when medical management (MM) insufficiently prevents the occurrence of hyperammonemic events. However, there is a paucity of systematic analyses on the effects of LTx on health-related outcome parameters compared to individuals with comparable severity who are medically managed. Methods: We investigated the effects of LTx and MM on validated health-related outcome parameters, including the metabolic disease course, linear growth, and neurocognitive outcomes. Individuals were stratified into “severe” and “attenuated” categories based on the genotype-specific and validated in vitro enzyme activity. Results: LTx enabled metabolic stability by prevention of further hyperammonemic events after transplantation and was associated with a more favorable growth outcome compared with individuals remaining under MM. However, neurocognitive outcome in individuals with LTx did not differ from the medically managed counterparts as reflected by the frequency of motor abnormality and cognitive standard deviation score at last observation. Conclusion: Whereas LTx enabled metabolic stability without further need of protein restriction or nitrogen-scavenging therapy and was associated with a more favorable growth outcome, LTx—as currently performed—was not associated with improved neurocognitive outcomes compared with long-term MM in the investigated urea cycle disorders.

Published
2024

14. Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries

Author

Feillet, François, Ficicioglu, Can, Lagler, Florian B., Longo, Nicola, Muntau, Ania C., Burlina, Alberto, Trefz, Friedrich K., van Spronsen, Francjan J., Arnoux, Jean‐Baptiste, Lindstrom, Kristin, Lilienstein, Joshua, Clague, Gillian E., Rowell, Richard, and Burton, Barbara K.

Abstract

Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth defects. Sapropterin dihydrochloride helps maintain blood Phe control, but there is limited evidence on its risk–benefit ratio when used during pregnancy. Data from the maternal sub‐registries—KAMPER (NCT01016392) and PKUDOS (NCT00778206; PKU‐MOMs sub‐registry)—were collected to assess the long‐term safety and efficacy of sapropterin in pregnant women in a real‐life setting. Pregnancy and infant outcomes, and the safety of sapropterin were assessed. Final data from 79 pregnancies in 57 women with PKU are reported. Sapropterin dose was fairly constant before and during pregnancy, with blood Phe levels maintained in the recommended target range during the majority (82%) of pregnancies. Most pregnancies were carried to term, and the majority of liveborn infants were reported as 'normal' at birth. Few adverse and serious adverse events were considered related to sapropterin, with these occurring in participants with high blood Phe levels. This report represents the largest population of pregnant women with PKU exposed to sapropterin. Results demonstrate that exposure to sapropterin during pregnancy was well‐tolerated and facilitated maintenance of blood Phe levels within the target range, resulting in normal delivery. This critical real‐world data may facilitate physicians and patients to make informed treatment decisions about using sapropterin in pregnant women with PKU and in women of childbearing age with PKU who are responsive to sapropterin. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

16. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Author

Ng, Bobby G, Shiryaev, Sergey A, Rymen, Daisy, Eklund, Erik A, Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E, Alehan, Fusun, Midro, Alina T, Bamshad, Michael J, Barone, Rita, Berry, Gerard T, Brumbaugh, Jane E, Buckingham, Kati J, Clarkson, Katie, Cole, F Sessions, O'Connor, Shawn, Cooper, Gregory M, Coster, Rudy, Demmer, Laurie A, Diogo, Luisa, Fay, Alexander J, Ficicioglu, Can, Fiumara, Agata, Gahl, William A, Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A, He, Miao, Jaeken, Jaak, James, Philip M, Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J, Lachlan, Katherine, Lam, Christina, Yaplito‐Lee, Joy, Nickerson, Deborah A, Peters, Heidi L, Race, Valerie, Régal, Luc, Rush, Jeffrey S, Rutledge, S Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E, Trapane, Pamela, Sanchez‐Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J, Wang, Raymond Y, Wolfe, Lynne A, Wong, Derek A, Wood, Tim, Yang, Amy C, Genomics, University of Washington Center for Mendelian, Matthijs, Gert, and Freeze, Hudson H

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Pediatric, Clinical Research, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, Aetiology, Biomarkers, Congenital Disorders of Glycosylation, Female, Genes, Lethal, Glycosylation, Humans, Male, Mannosyltransferases, Mutation, Polysaccharides, Sequence Analysis, DNA, Survival Analysis, CDG, asparagine-linked glycosylation protein 1, carbohydrate-deficient transferrin, xeno-tetrasaccharide, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate required for proper N-linked glycosylation. ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. To date 13 mutations in 18 patients from 14 families have been described with varying degrees of clinical severity. We identified and characterized 39 previously unreported cases of ALG1-CDG from 32 families and add 26 new mutations. Pathogenicity of each mutation was confirmed based on its inability to rescue impaired growth or hypoglycosylation of a standard biomarker in an alg1-deficient yeast strain. Using this approach we could not establish a rank order comparison of biomarker glycosylation and patient phenotype, but we identified mutations with a lethal outcome in the first two years of life. The recently identified protein-linked xeno-tetrasaccharide biomarker, NeuAc-Gal-GlcNAc2 , was seen in all 27 patients tested. Our study triples the number of known patients and expands the molecular and clinical correlates of this disorder.

Published
2016

18. Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

Author

Ganetzky, Rebecca D., Bedoukian, Emma, Deardorff, Matthew A., Ficicioglu, Can, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
Full Text
View/download PDF

20. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Author

Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., and Mefford, Heather C.

Published
2019
Full Text
View/download PDF

22. A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

Author

Muschol, Nicole M., Burton, Barbara K., Ficicioglu, Can, Magner, Martin, Gil-Campos, Mercedes, Lopez-Rodriguez, Monica, Jayakar, Parul, Lund, Allan, Tal, Galit, Garcia, Jose E., Stepien, Karolina M., Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara, Hennermann, Julia B., Lampe, Christina, McNutt, Markey, Lagler, Florian, Scarpa, Maurizio, Sutton, V. Reid, and Guffon, Nathalie

Published
2024
Full Text
View/download PDF

23. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

Author

Scharre, Svenja, Posset, Roland, Garbade, Sven F., Gleich, Florian, Seidl, Marie J., Druck, Ann‐Catrin, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Ah Mew, Nicholas, Baumgartner, Matthias R., Berry, Gerard T., Berry, Susan A., Burrage, Lindsay, Diaz, George A., Ficicioglu, Can, Kisin, Genya, Konczal, Laura, Lam, Christina, McCandless, Shawn E., Merritt, J. Lawrence, Schulze, Andreas, Walter, Magdalena E., Wilson, Ashley, Wong, Derek, Arnaudo, Florence, Augoustides‐ Savvopoulou, Persephone, Barić, Ivo, Bosch, Annet M., Cano, Aline, Chien, Yin‐Hsiu, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Eyskens, Francois, Freisinger, Peter, Garcia‐Cazorla, Angeles, Honzik, Tomas, Karall, Daniela, Lund, Allan M., Murphy, Elaine, Santer, René, Schiff, Manuel, Skouma, Anastasia, Sykut‐Cegielska, Jolanta, Wijburg, Frits A., Zeman, Jiri, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group, VU University medical center, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, and ARD - Amsterdam Reproduction and Development

Subjects
Male, Phenotype, ornithine transcarbamylase deficiency, disease severity, prediction, General Neuroscience, Humans, Hyperammonemia, Neurology (clinical), Severity of Illness Index, Ornithine Carbamoyltransferase Deficiency Disease
Abstract

Objective: Ornithine transcarbamylase deficiency (OTC-D) is an X-linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even asymptomatic individuals, the prediction of the disease course at an early disease stage is very important to individually adjust therapies such as medical treatment or liver transplantation. In this translational study, we developed a severity-adjusted classification system based on in vitro residual enzymatic OTC activity. Methods: Applying a cell-based expression system, residual enzymatic OTC activities of 71 pathogenic OTC variants were spectrophotometrically determined and subsequently correlated with clinical and biochemical outcome parameters of 119 male individuals with OTC-D (mOTC-D) as reported in the UCDC and E-IMD registries. Results: Integration of multiple data sources enabled the establishment of a robust disease prediction model for mOTC-D. Residual enzymatic OTC activity not only correlates with age at first symptoms, initial peak plasma ammonium concentration and frequency of metabolic decompensations but also predicts mortality. The critical threshold of 4.3% residual enzymatic activity distinguishes a severe from an attenuated phenotype. Interpretation: Residual enzymatic OTC activity reliably predicts the disease severity in mOTC-D and could thus serve as a tool for severity- adjusted evaluation of therapeutic strategies and counselling patients and parents.

Published
2022

24. ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

Author

Ganetzky, Rebecca D., Bloom, Kaitlyn, Ahrens-Nicklas, Rebecca, Edmondson, Andrew, Deardorff, Matthew A., Bennett, Michael J., Ficicioglu, Can, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2016
Full Text
View/download PDF

27. P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

Author

Ficicioglu, Can, Muschol, Nicole, Burton, Barbara, Magner, Martin, Gil-Campos, Mercedes, Rodriguez, Monica Lopez, Jayakar, Parul, Lund, Allan, Tal, Galit, Garcia-Ortiz, Jose Elias, Stepien, Karolina, Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara, Hennermann, Julia, Lampe, Christina, McNutt, Markey, Lagler, Florian, Scarpa, Maurizio, Sutton, Vernon, and Guffon, Nathalie

Published
2024
Full Text
View/download PDF

32. MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA

Author

Schwahn, Bernd C., primary, Berry, Gerard T., additional, Santra, Saikat, additional, Vernon, Hilary, additional, Li, Hong, additional, Lawrence Merritt, J., additional, Schiff, Manuel, additional, Chabrol, Brigitte, additional, Heras, Javier De las, additional, Vockley, Jerry, additional, Lee, Chung, additional, Koeberl, Dwight, additional, Burton, Barbara, additional, Grunewald, Stephanie, additional, Morgan, Thomas, additional, Diaz, George, additional, Ficicioglu, Can, additional, Luo, Junxiang, additional, Attarwala, Husain, additional, Sikirica, Vanja, additional, Liang, Min, additional, Guey, Lin T., additional, Lukacs, Christine, additional, Martini, Paolo G.V., additional, Glaser, Ruchira, additional, and Carrillo, Nuria, additional

Published
2023
Full Text
View/download PDF

35. Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1)

Author

Jarnes, Jeanine R., primary, Hastings, Caroline A., additional, Ficicioglu, Can H., additional, Day-Salvatore, Debra-Lynn, additional, Giugliani, Roberto, additional, Baruteau, Julien, additional, Whitley, Chester B., additional, Inbar-Feigenberg, Michal, additional, Bernard, Geneviève, additional, Ezgü, Fatih S., additional, Ni, Yan G., additional, Miller, Michelle, additional, Gelb, Michael H., additional, Nagilla, Pruthvi, additional, Johnstone, Rose, additional, Elsasser, Patricia, additional, Cunningham, Elizabeth, additional, Ballard, Victoria, additional, Haws, Thomas F., additional, Forman, Mark S., additional, and Weinstein, David A., additional

Published
2023
Full Text
View/download PDF

37. RGX-121 gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in human study

Author

Harmatz, Paul, primary, Ficicioglu, Can H., additional, Giugliani, Roberto, additional, Rajan, Deepa, additional, Hagood, Joseph, additional, Fiscella, Michele, additional, Yang, Lin, additional, Gilmor, Michelle, additional, Cho, Yoonjin, additional, Phillips, Dawn, additional, and Falabella, Paulo, additional

Published
2023
Full Text
View/download PDF

46. A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

Author

Katler, Quinton S., primary, Stepien, Karolina M., additional, Paull, Nathan, additional, Patel, Sneh, additional, Adams, Michael, additional, Balci, Mehmet Cihan, additional, Berry, Gerard T., additional, Bosch, Annet M., additional, DeLaO, Angela, additional, Demirbas, Didem, additional, Edman, Julianna, additional, Ficicioglu, Can, additional, Goff, Melanie, additional, Hacker, Stephanie, additional, Knerr, Ina, additional, Lancaster, Kristen, additional, Li, Hong, additional, Mendelsohn, Bryce A., additional, Nichols, Brandi, additional, de Rezende Pinto, Wladimir Bocca Vieira, additional, Rocha, Júlio César, additional, Rubio‐Gozalbo, M. Estela, additional, Saad‐Naguib, Michael, additional, Scholl‐Buergi, Sabine, additional, Searcy, Sarah, additional, de Souza, Paulo Victor Sgobbi, additional, Wittenauer, Angela, additional, and Fridovich‐Keil, Judith L., additional

Published
2022
Full Text
View/download PDF

48. Interim Safety, Biomarker, and Efficacy Data From Imagine-1: A Phase 1/2 Open-label, Multicenter Study to Assess the Safety, Tolerability, and Efficacy of a Single Dose, ICM Administration of PBGM01 in Subjects with Type I (Early Onset) and 10. Type IIa (Late Onset) Infantile GM1 Gangliosidosis (GM1)

Author

Whitley, Chester B., Weinstein, David A., Hastings, Caroline A., Ni, Yan G., Jarnes, Jeanine R., Day-Salvatore, Debra-Lynn, Ficicioglu, Can, Inbar-Feigenberg, Michal, Bernard, Genevieve, Giugliani, Roberto, Baruteau, Julien, EZGÜ, FATİH SÜHEYL, Forman, Mark S., Gelb, Michael H., Haws, Thomas F., Ballard, Victoria L., and Nagilla, Pruthvi

Published
2022

49. Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

Author

Brower, Amy, primary, Chan, Kee, additional, Williams, Marc, additional, Berry, Susan, additional, Currier, Robert, additional, Rinaldo, Piero, additional, Caggana, Michele, additional, Gaviglio, Amy, additional, Wilcox, William, additional, Steiner, Robert, additional, Holm, Ingrid A., additional, Taylor, Jennifer, additional, Orsini, Joseph J., additional, Brunelli, Luca, additional, Adelberg, Joanne, additional, Bodamer, Olaf, additional, Viall, Sarah, additional, Scharfe, Curt, additional, Wasserstein, Melissa, additional, Chen, Jin Y., additional, Escolar, Maria, additional, Goldenberg, Aaron, additional, Swoboda, Kathryn, additional, Ficicioglu, Can, additional, Matern, Dieter, additional, Lee, Rachel, additional, and Watson, Michael, additional

Published
2022
Full Text
View/download PDF

50. Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care

Author

Szigety, Katherine M., primary, Crowley, Terrence B., additional, Gaiser, Kimberly B., additional, Chen, Erin Y., additional, Priestley, Jessica R.C., additional, Williams, Lydia S., additional, Rangu, Sneha A., additional, Wright, Christina M., additional, Adusumalli, Priyanka, additional, Ahrens-Nicklas, Rebecca C., additional, Calderon, Brandon, additional, Cuddapah, Sanmati R., additional, Edmondson, Andrew, additional, Ficicioglu, Can, additional, Ganetzky, Rebecca, additional, Kalish, Jennifer M., additional, Krantz, Ian D., additional, McDonald-McGinn, Donna M., additional, Medne, Livija, additional, Muraresku, Colleen, additional, Pyle, Louise C., additional, Zackai, Elaine H., additional, Campbell, Ian M., additional, and Sheppard, Sarah E., additional

Published
2022
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results