Literature DB >> 4918728

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies.

A G Engel.   

Abstract

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Year:  1970        PMID： 4918728     DOI： 10.1093/brain/93.3.599

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


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  46 in total

Review 1.  Animal models of glycogen storage conditions. Their relation to human disease.

Authors:  S R Gross
Journal:  West J Med       Date:  1975-09

2.  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

Review 3.  Role of autophagy in the pathogenesis of Pompe disease.

Authors:  N Raben; A Roberts; P H Plotz
Journal:  Acta Myol       Date:  2007-07

4.  Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male.

Authors:  A M Chancellor; C P Warlow; J N Webb; M G Lucas; G T Besley; D M Broadhead
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-07       Impact factor: 10.154

Review 5.  Pros and cons of different ways to address dysfunctional autophagy in Pompe disease.

Authors:  Jeong-A Lim; Naresh Kumar Meena; Nina Raben
Journal:  Ann Transl Med       Date:  2019-07

6.  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

Review 7.  Pompe Disease: From Basic Science to Therapy.

Authors:  Lara Kohler; Rosa Puertollano; Nina Raben
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

8.  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

9.  Biochemical, immunological, and cell genetic studies in glycogenosis type II.

Authors:  A J Reuser; J F Koster; A Hoogeveen; H Galjaard
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

10.  Localization of dystrophin and beta-spectrin in vacuolar myopathies.

Authors:  J L De Bleecker; A G Engel; J C Winkelmann
Journal:  Am J Pathol       Date:  1993-10       Impact factor: 4.307
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