Search Results - "Aquaviva‐bourdain, Cécile"

HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients by M'dimegh, Saoussen, Aquaviva‐bourdain, Cécile, Omezzine, Asma, Souche, Geneviéve, M'barek, Ibtihel, Abidi, Kamel, Gargah, Tahar, Abroug, Saoussen, Bouslama, Ali

“…Background Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4‐hydroxy‐2‐oxoglutarate aldolase (HOGA1) gene. PH3 might be the…”
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Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1 by M'dimegh, Saoussen, Omezzine, Asma, M'barek, Ibtihel, Moussa, Amira, Mabrouk, Sameh, Kaarout, Hayet, Souche, Geneviéve, Chemli, Jalel, Aloui, Sabra, Aquaviva‐Bourdain, Cécile, Achour, Abdellatif, Abroug, Saoussen, Bouslama, Ali

“…Summary Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding…”
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Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure by M'dimegh, Saoussen, PhD, Omezzine, Asma, PhD, Hamida-Rebai, Mériam Ben, Aquaviva-bourdain, Cécile, PharmD, PhD, M'barek, Ibtihel, PhD, Sahtout, Wissal, Zellama, Dorsaf, Souche, Geneviéve, Achour, Abdellatif, Abroug, Saoussen, MD, Bouslama, Ali

“…Abstract Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of…”
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A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype–phenotype correlation by M’DIMEGH, SAOUSSEN, AQUAVIVA-BOURDAIN, CÉCILE, OMEZZINE, ASMA, M’BAREK, IBTIHEL, SOUCHE, GENEVIÉVE, ZELLAMA, DORSAF, ABIDI, KAMEL, ACHOUR, ABDELATTIF, GARGAH, TAHAR, ABROUG, SAOUSSEN, BOUSLAMA, ALI

“…Primary hyperoxaluria type I (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal…”
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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency by Arribas-Carreira, Laura, Dallabona, Cristina, Swanson, Michael A, Farris, Joseph, Østergaard, Elsebet, Tsiakas, Konstantinos, Hempel, Maja, Aquaviva-Bourdain, Cecile, Koutsoukos, Stefanos, Stence, Nicholas V, Magistrati, Martina, Spector, Elaine B, Kronquist, Kathryn, Christensen, Mette, Karstensen, Helena G, Feichtinger, René G, Achleitner, Melanie T, Lawrence Merritt II, J, Pérez, Belén, Ugarte, Magdalena, Grünewald, Stephanie, Riela, Anthony R, Julve, Natalia, Arnoux, Jean-Baptiste, Haldar, Kasturi, Donnini, Claudia, Santer, René, Lund, Allan M, Mayr, Johannes A, Rodriguez-Pombo, Pilar, Van Hove, Johan L K

“…Abstract Maintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for…”
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