Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is characterized by progressive renal insufficiency culminating in end-stage renal disease, and a wide range of clinical features related to systemic oxalosis in different organs. It is caused by autosomal recessive deficiency of alanine:glyoxylate amin...

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Detalles Bibliográficos
Autores principales: Alfadhel, Majid, Alhasan, Khalid A, Alotaibi, Mohammed, Al Fakeeh, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431957/
https://www.ncbi.nlm.nih.gov/pubmed/22956877
http://dx.doi.org/10.2147/TCRM.S34954

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