Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?
作者信息
Strisciuglio P, Sartorio R, Pecoraro C, Lotito F, Sly W S
机构信息
Department of Paediatrics, II Facolta di Medicina, Naples, Italy.
出版信息
Eur J Pediatr. 1990 Feb;149(5):337-40. doi: 10.1007/BF02171561.
PMID:2107079
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.
摘要
Zotero 插件