Search Results - "M’DIMEGH, SAOUSSEN"

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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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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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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