Novel Mutations in the Gene Encoding Acid .ALPHA.-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence-Reference-Cited by-同舟云学术

Novel Mutations in the Gene Encoding Acid .ALPHA.-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence

Published:2011 Issue:24 Volume:50 Page:2987-2991
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Muraoka Tomie¹,Murao Koji²,Imachi Hitomi²,Kikuchi Fumi¹,Yoshimoto Takuo¹,Iwama Hisakazu³,Hosokawa Hitoshi⁴,Nishino Ichizo⁵,Fukuda Tokiko⁶,Sugie Hideo⁶,Adachi Kaori⁷⁸,Nanba Eiji⁷,Ishida Toshihiko¹

Affiliation:

1. Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Kagawa University, Japan

2. Department of Advanced Medicine, Faculty of Medicine, Kagawa University, Japan

3. Life Science Research Center, Kagawa University, Japan

4. Social Insurance Ritsurin Hospital, Japan

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

6. Department of Pediatrics, Jichi Medical University and Jichi Children's Medical Center, Japan

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

8. Division of child neurology, Department of Brain and Neurosciences, Tottori University, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

http://www.jstage.jst.go.jp/article/internalmedicine/50/24/50_24_2987/_pdf

Reference16 articles.

1. Pompe disease in infants and children

2. Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation

3. A Rare Presentation of Childhood Pompe Disease: Cardiac Involvement Provoked by Epstein-Barr Virus Infection

4. Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

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