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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

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