Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Manel Guirat"'
Autor:
Nadine Gigarel, Fabien Reyal, Pascale de Lonlay, Ghislaine Royer, Chris Ottolenghi, Clément Pontoizeau, Jean-Paul Bonnefont, Arnold Munnich, Manel Guirat, Julie Steffann, Fabienne Jabot-Hanin, Stephanie Gobin-Limballe, Anaïs Brassier, Marlène Rio, Marie Simon, Jean-Baptiste Arnoux, Maryse Magen, Roselyne Gesny
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(5)
OTC deficiency, an inherited urea cycle disorder, is caused by mutations in the X-linked OTC gene. Phenotype-genotype correlations are well understood in males but still poorly known in females. Taking advantage of a cohort of 130 families (289 femal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eb6fa215776de4601d8c062e6e0868f
https://pubmed.ncbi.nlm.nih.gov/34014569
https://pubmed.ncbi.nlm.nih.gov/34014569
Autor:
Fatma Kammoun, Leila Keskes, Wael Ouarda, Najla Kharrat, Fatma Mejdoub, Nesrine Baklouti, Abdullah A.Y. Gibriel, Hassen Kamoun, Ines Elloumi, Fatma Abdelhedi, Fakher Frikha, Ikhlas Ben Ayed, Adel M. Alimi, Imene Boujelbene, Manel Guirat, Mariem Ben Said, Neila Belguith, N. Gharbi, Tarak M Hamdani, Chahnez Triki, Amal Souissi, Saber Masmoudi, Amal Bouzid
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(4)
Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade90112fc16fb60f4066f3b1b945c8f
https://pubmed.ncbi.nlm.nih.gov/33403770
https://pubmed.ncbi.nlm.nih.gov/33403770