Carbonic anhydrase II deficiency: A rare autosomol recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification

Journal of Pediatric Hematology/Oncology

Volumn 27, Issue 2, 2005, Pages 115-117

  Cotter, Melanie ^a   Cornell, Thomas ^b   Colhoun, Eric ^b   Smith, Owen P ^c   McMahon, Corrina ^c  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

Carbonic anhydrase II deficiency; Cerebral calcification; Osteopetrosis; Renal tubular acidosis

Indexed keywords

BICARBONATE; CARBONATE DEHYDRATASE II;

ALBERS SCHOENBERG DISEASE; ANEMIA; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BLOOD SMEAR; BONE DENSITY; BRAIN CALCIFICATION; CARBONIC ANHYDRASE II DEFICIENCY; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL BONE DISEASE; DISEASE SEVERITY; ENZYME ASSAY; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; INFANT; KIDNEY TUBULE ACIDOSIS; MALE; PRIORITY JOURNAL; REVIEW; SHORT STATURE; THORAX RADIOGRAPHY; WHITE MATTER;

ACIDOSIS, RENAL TUBULAR; BRAIN; CALCINOSIS; CARBONIC ANHYDRASE II; HUMANS; INFANT; MALE; OSTEOPETROSIS;

EID: 13944264754     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mph.0000154068.86987.47     Document Type: Review

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