Carbonic Anhydrase II Deficiency in a Saudi Woman

OBJECTIVE: Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to e...

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Detalles Bibliográficos
Autores principales: Alhuzaim, Omar N, Almohareb, Ohoud M, Sherbeeni, Safiya M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Libertas Academica 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317082/
https://www.ncbi.nlm.nih.gov/pubmed/25674028
http://dx.doi.org/10.4137/CCRep.S16897

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317082/
https://www.ncbi.nlm.nih.gov/pubmed/25674028
http://dx.doi.org/10.4137/CCRep.S16897

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