Literature DB >> 5247277

Adult myopathy from glycogen storage disease due to acid maltase deficiency.

P Hudgson, D Gardner-Medwin, M Worsfold, R J Pennington, J N Walton.   

Abstract

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Year:  1968        PMID： 5247277     DOI： 10.1093/brain/91.3.435

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  24 in total

1.  Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.

Authors:  H Isaacs; N Savage; M Badenhorst; T Whistler
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-09       Impact factor: 10.154

2.  Progressive extrinsic ophthalmoplegia with peripheral neuropathy and storage of muscle glycogen.

Authors:  M Moggio; G Valli; C Cerri; G Scarlato; G Pellegrini
Journal:  J Neurol       Date:  1979-07-11       Impact factor: 4.849

3.  Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.

Authors:  N G Beratis; G U LaBadie; K Hirschhorn
Journal:  J Clin Invest       Date:  1978-12       Impact factor: 14.808

4.  Steroid myopathy complicating McArdle's disease.

Authors:  F L Mastaglia; J P McCollum; P F Larson; P Hudgson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1970-02       Impact factor: 10.154

5.  Classification of late myopathies based on observation of 15 new cases.

Authors:  G Bekény
Journal:  Z Neurol       Date:  1972

6.  Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case.

Authors:  N Canal; L Frattola; G Pellegrini
Journal:  Z Neurol       Date:  1972

7.  Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres.

Authors:  T Papapetropoulos; C Paschalis; P Manda
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-02       Impact factor: 10.154

8.  Tris discriminates between the different alpha-glucosidase activities from extracts of human neutrophils.

Authors:  M A Ortiz de Apodaca; E Fernandez; G de la Fuente
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

9.  Myoglobinuria in carnitine palmityltransferase deficiency.

Authors:  D Rowett
Journal:  Int Urol Nephrol       Date:  1982       Impact factor: 2.370

10.  Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

Authors:  C F Boerkoel; R Exelbert; C Nicastri; R C Nichols; F W Miller; P H Plotz; N Raben
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025
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