Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)-Reference-Cited by-同舟云学术

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Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)

Published:2008-04-23 Issue:1 Volume:19 Page:55-63
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Loonen M. C. B.,Schram A. W.,Koster J. F.,Niermeijer M. F.,Busch H. F. M.,Martin J. J.,Brouwer-Kelder B.,Mekes W.,Slee R. G.,Tager J. M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1981.tb00668.x/fullpdf

Reference27 articles.

1. Comparative study of acid maltase deficiency;Angelini;Arch. Neurol. (Chic.),1972

2. Diagnosis of Pompe's disease in cultivated skin fibroblasts and primary amniotic fluid cells using 4-methylumbelliferyl-alpha-D-glu-copyranoside as substrate;Butterworth;Clin. Chim. Acta,1977

3. Adult-onset acid maltase deficiency: a postmortem study;DiMauro;Muscle and Nerve,1978

4. Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak neuromuscular disease controls;Engel;J. Neurol. Neuro-surg. Psychiat.,1970

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review;Molecular Genetics and Metabolism Reports;2024-06

2. Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid α-glucosidase in Caenorhabditis elegans;Molecular and Cellular Biochemistry;2010-03-27

3. Correction/mutation of acid α-D-glucosidase gene by modified single-stranded oligonucleotides: in vitro and in vivo studies;Gene Therapy;2003-09-22

4. Electron microscopic features of skin in neurometabolic disorders;Journal of the Neurological Sciences;1992-10

5. Genetische Defekte mit Myokardbeteiligung;Myokarderkrankungen Perikarderkrankungen Herztumoren;1989

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