Review
doi: 10.1007/BF02171561.
Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?
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- PMID: 2107079
- DOI: 10.1007/BF02171561
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Review
Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?
Eur J Pediatr.
1990 Feb.
Abstract
The clinical and biochemical findings in an Italian sibship affected by carbonic anhydrase II deficiency are described. Evidence of clinical heterogeneity and an increased frequency of the disease in the Mediterranean area and the Middle East are discussed.
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