VARIABLE CLINICAL PRESENTATION OF CARBONIC-ANHYDRASE DEFICIENCY - EVIDENCE FOR HETEROGENEITY

被引：31

作者：

STRISCIUGLIO, P ^{[1
]}

SARTORIO, R ^{[1
]}

PECORARO, C ^{[1
]}

LOTITO, F ^{[1
]}

SLY, WS ^{[1
]}

机构：

[1] ST LOUIS UNIV,SCH MED,EDWARD A DOISY DEPT BIOCHEM,ST LOUIS,MO 63104

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1990年 / 149卷 / 05期

关键词：

Carbonic anhydrase II deficiency; Cerebral calcification; Mental retardation; Renal tubular acidosis;

D O I：

10.1007/BF02171561

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. © 1990 Springer-Verlag.

引用

页码：337 / 340

页数：4

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