Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral calcification, osteopetrosis and renal tubular acidosis (often combined proximal and distal). Mental retardation, growth failure, complications of osteopetrosis and other features were all recorded in this s...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2013-01-01
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| Series: | Saudi Journal of Kidney Diseases and Transplantation |
| Online Access: | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2013;volume=24;issue=3;spage=561;epage=565;aulast=Sh. |