Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation

BACKGROUND: Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was...

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Detalles Bibliográficos
Autores principales: Mbarek, Ibtihel Benhaj, Mdimeg, Saoussen, Moussa, Amira, Zellama, Dorsaf, Kaarout, Hayat, Abdelmoula, Jaouida, Achour, Abdellatif, Abroug, Saoussen, Omezzine, Asma, Bouslama, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472968/
https://www.ncbi.nlm.nih.gov/pubmed/28619084
http://dx.doi.org/10.1186/s12882-017-0612-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472968/
https://www.ncbi.nlm.nih.gov/pubmed/28619084
http://dx.doi.org/10.1186/s12882-017-0612-8

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