Biochemistry and molecular genetics of human glycogenoses: An overview-Reference-Cited by-同舟云学术

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Biochemistry and molecular genetics of human glycogenoses: An overview

Published:1995 Issue:S14 Volume:18 Page:S10-S17
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

DiMauro Salvatore,Tsujino Seiichi,Shanske Sara,Rowland Lewis P.

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Reference61 articles.

1. Muscle phosphofructokinase deficiency: Two cases with unusual polysaccharide accumulation and immunologically active enzyme protein

2. Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: A unique disorder or the natural course of this glycolytic disorder?

3. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases

4. , : McArdle's disease: a rare frameshift mutation in exon 1 of the muscle phosphorylase gene. Biochim Biophys Acta (in press).

5. Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.

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