Pompe Disease Literature Review and Case Series

被引：95

作者：

Dasouki, Majed ^{[1
,2
]}

Jawdat, Omar ^{[3
]}

Almadhoun, Osama ^{[4
]}

Pasnoor, Mamatha ^{[3
]}

McVey, April L. ^{[3
]}

Abuzinadah, Ahmad ^{[3
]}

Herbelin, Laura ^{[3
]}

Barohn, Richard J. ^{[3
]}

Dimachkie, Mazen M. ^{[3
]}

机构：

[1] Univ Kansas Med Ctr, Dept Neurol, Kansas City, KS 66160 USA

[2] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[3] Univ Kansas Med Ctr, Dept Neurol, Kansas City, KS 66160 USA

[4] Univ Kansas Med Ctr, Dept Pediat, Kansas City, KS 66160 USA

来源：

NEUROLOGIC CLINICS | 2014年 / 32卷 / 03期

基金：

美国国家卫生研究院;

关键词：

Metabolic myopathy; Hypotonia; Autosomal recessive; Enzyme replacement therapy; Newborn screening; Lysosomal glycogen storage disease; ENZYME REPLACEMENT THERAPY; ACID ALPHA-GLUCOSIDASE; LYSOSOMAL STORAGE DISORDERS; DRIED BLOOD SPOTS; TANDEM MASS-SPECTROMETRY; IMMUNE TOLERANCE INDUCTION; LATE-ONSET; MALTASE DEFICIENCY; GLYCOGEN-ACCUMULATION; HURLER DISEASES;

D O I：

10.1016/j.ncl.2014.04.010

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 patients with various forms of Pompe disease including 4 potentially pathogenic, novel GAA variants. We also review the recent advances in the pathogenesis, diagnosis, and treatment of individuals with Pompe disease.

引用

页码：751 / +

页数：27

共 134 条

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