INFANTILE AND ADULT-ONSET ACID MALTASE DEFICIENCY OCCURRING IN THE SAME FAMILY

被引：22

作者：

BUSCH, HFM

KOSTER, JF

VANWEERDEN, TW

机构：

[1] ERASMUS UNIV, DEPT NEUROL, ROTTERDAM, NETHERLANDS

[2] ERASMUS UNIV, DEPT PATHOL, ROTTERDAM, NETHERLANDS

[3] ERASMUS UNIV, DEPT BIOCHEM, ROTTERDAM, NETHERLANDS

[4] STATE UNIV GRONINGEN, DEPT NEUROL, GRONINGEN, NETHERLANDS

来源：

NEUROLOGY | 1979年 / 29卷 / 03期

关键词：

D O I：

10.1212/WNL.29.3.415

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 16 wk old girl died from the infantile form of acid maltase deficiency (Pompe disease, acid .alpha.-glucosidase deficiency). Her paternal grandfather was well until the age of 53 yr, when he started to suffer from the adult-onset form of the same enzyme deficiency. The infantile and adult-onset forms of acid maltase deficiency may be genetically related.

引用

页码：415 / 416

页数：2

共 9 条

[1]

DIMAURO S, 1977, PATHOGENESIS HUMAN M, P506

[2] SPECTRUM AND DIAGNOSIS OF ACID MALTASE DEFICIENCY [J].