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Irish Child Health Database - Peer Reviewed Papers

Database Search

Irish Child Health Database » Study Papers » Descriptive Studies - Without a comparision » Case Report Study » Other - carbonic anhydrase II deficiency-condiction

Other - carbonic anhydrase II deficiency-condiction

Your search returns 1 documents

1. Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification

This case report discusses a carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification

Abstract:

The authors present a case of osteopetrosis due to carbonic anhydrase II deficiency. Clinical, laboratory and radiologic findings are reported. The genetics of osteopetrosis are reviewed. more...

International Classification:

Other - carbonic anhydrase II deficiency-condiction

Categories:

carbonic anhydrase II deficiency

Geography:

Republic of Ireland

J Pediatr Hematol Oncol, Vol: 27 Page: 115-7 February 2005
M. Cotter; T. Connell; E. Colhoun; O. P. Smith; C. McMahon

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