A Novel Mutation of the <i>GAA</i> Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology-Reference-Cited by-同舟云学术

A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology

Published:2013 Issue:21 Volume:52 Page:2461-2464
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Fujimoto Shohei¹,Manabe Yasuhiro¹,Fujii Daiki¹,Kozai Yuko¹,Matsuzono Kosuke¹,Takahashi Yoshiaki¹,Narai Hisashi¹,Omori Nobuhiko¹,Adachi Kaori²,Nanba Eiji²,Nishino Ichizo³,Abe Koji⁴

Affiliation:

1. Department of Neurology, National Hospital Organization Okayama Medical Center, Japan

2. Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan

3. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan

4. Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/52/21/52_52.0311/_pdf

Reference14 articles.

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2. 2. Karpati G, Carpenter S, Eisen A, Aubé M, DiMauro S. The adult form of acid maltase (α-1,4-glucosidase) deficiency. Ann Neurol 1: 276-280, 1977.

3. 3. Bertagnolio B, Di Donato S, Peluchetti D, Rimoldi M, Storchi G, Cornelio F. Acid maltase deficiency in adults. Clinical, morphlogical and biochemical study of three patients. Eur Neurol 17: 193-204, 1978.

4. 4. Rosenow EC 3rd, Engel AG. Acid maltase deficiency in adults presenting as respiratory failure. Am J Med 64: 485-491, 1978.

5. 5. Trend PS, Wiles CM, Spencer GT, Morgan-Hughes JA, Lake BD, Patrick AD. Acid maltase deficiency in adults. Diagnosis and management in five cases. Brain 108: 845-860, 1985.

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