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Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?
P Strisciuglio1, R Sartorio, C Pecoraro
1Department of Paediatrics, II Facolta di Medicina, Naples, Italy.
European Journal of Pediatrics
|February 1, 1990
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.