Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Geneviéve Souche"'
Autor:
Hayet Kaarout, Jalel Chemli, Abdellatif Achour, Amira Moussa, Asma Omezzine, Saoussen Abroug, Ali Bouslama, Geneviéve Souche, Sabra Aloui, Saoussen M'dimegh, Ibtihel M'barek, Cécile Aquaviva-bourdain, Sameh Mabrouk
Publikováno v:
Annals of Human Genetics. 81:1-10
Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT). PH1 is a clinically and genetically hetero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff396de0b8279edb0a1bca82e8aed24b
https://doi.org/10.1111/ahg.12178
https://doi.org/10.1111/ahg.12178
Autor:
Asma Omezzine, Tahar Gargah, Geneviéve Souche, Dorsaf Zellama, Ali Bouslama, Ibtihel M'barek, Saoussen M'dimegh, Abdelattif Achour, Kamel Abidi, Saoussen Abroug, Cécile Aquaviva-bourdain
Publikováno v:
Journal of Genetics. 95:659-666
Primary hyperoxaluria type I (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine : glyoxylate aminotransferase (AGT) which is deficient or mistargeted to mitochondria. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77ad512d661bc70705baabbeef42b5e4
https://doi.org/10.1007/s12041-016-0676-4
https://doi.org/10.1007/s12041-016-0676-4
Autor:
Saoussen, M'dimegh, Asma, Omezzine, Ibtihel, M'barek, Amira, Moussa, Sameh, Mabrouk, Hayet, Kaarout, Geneviéve, Souche, Jalel, Chemli, Sabra, Aloui, Cécile, Aquaviva-Bourdain, Abdellatif, Achour, Saoussen, Abroug, Ali, Bouslama
Publikováno v:
Annals of human genetics. 81(1)
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT). PH1 is a clinically and genetically heterogeneous dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f2f45f3905d4b4a7e4b5f1affd326d23
https://pubmed.ncbi.nlm.nih.gov/27935012
https://pubmed.ncbi.nlm.nih.gov/27935012
Autor:
Asma Omezzine, Wissal Sahtout, Ibtihel M'barek, Saoussen Abroug, Cécile Aquaviva-bourdain, Meriam Ben Hamida-Rebai, Dorsaf Zellama, Ali Bouslama, Geneviéve Souche, Saoussen M'dimegh, Abdellatif Achour
Publikováno v:
Transplant immunology. 39
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81614842af950bd32b44bd368d401c12
https://pubmed.ncbi.nlm.nih.gov/27568336
https://pubmed.ncbi.nlm.nih.gov/27568336
Autor:
Asma Omezzine, Saoussen M'dimegh, Ibtihel M'barek, Kamel Abidi, Geneviéve Souche, Saoussen Abroug, Cécile Aquaviva-bourdain, Ali Bouslama, Tahar Gargah
Publikováno v:
Journal of Clinical Laboratory Analysis. 31:e22053
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 least severe form with a milder phenotype with good preservation of kidney function in most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::475bb2352ab1870f02f87e58a2871b01
https://doi.org/10.1002/jcla.22053
https://doi.org/10.1002/jcla.22053