Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Inès Ouertani"'
Autor:
Mariem El Younsi, Médiha Trabelsi, Sandra Ben Youssef, Inès Ouertani, Yousra Hammi, Ahlem Achour, Faouzi Maazoul, Maher Kharrat, Tahar Gargah, Ridha M’rad
Publikováno v:
Pediatric nephrology (Berlin, Germany). 38(1)
Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d34a3616e6a7cf30d7f7b70dc4ae424e
https://pubmed.ncbi.nlm.nih.gov/35445972
https://pubmed.ncbi.nlm.nih.gov/35445972
Autor:
Emira Ben Hamida, Imene Ayadi, Ines Ouertani, Maroua Chammem, Ahlem Bezzine, Riadh Ben Tmime, Leila Attia, Ridha Mrad, Zahra Marrakchi
Publikováno v:
The Pan African Medical Journal, Vol 21, Iss 110 (2015)
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs o
Externí odkaz:
https://doaj.org/article/fcf174b061424c8e95690b68692baf17