Literature DB >> 1895140

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

A M Chancellor, C P Warlow, J N Webb, M G Lucas, G T Besley, D M Broadhead.   

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Year:  1991        PMID： 1895140      PMCID： PMC1014450          DOI： 10.1136/jnnp.54.7.659

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  7 in total

1.  The adult form of acid maltase (alpha-1,4-glucosidase) deficiency.

Authors:  G Karpati; S Carpenter; A Eisen; M Aubé; S DiMauro
Journal:  Ann Neurol       Date:  1977-03       Impact factor: 10.422

2.  The spectrum and diagnosis of acid maltase deficiency.

Authors:  A G Engel; M R Gomez; M E Seybold; E H Lambert
Journal:  Neurology       Date:  1973-01       Impact factor: 9.910

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

Authors:  A G Engel
Journal:  Brain       Date:  1970       Impact factor: 13.501

4.  Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

Authors:  A J Reuser; M Kroos; R Willemsen; D Swallow; J M Tager; H Galjaard
Journal:  J Clin Invest       Date:  1987-06       Impact factor: 14.808

5.  Protein turnover in acid maltase deficiency before and after treatment with a high protein diet.

Authors:  A M Umpleby; C M Wiles; P S Trend; I N Scobie; A F Macleod; G T Spencer; P H Sonksen
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-05       Impact factor: 10.154

6.  Respiratory failure as initial symptom of acid maltase deficiency.

Authors:  R W Keunen; P C Lambregts; A A Op de Coul; E M Joosten
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-05       Impact factor: 10.154

7.  Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family.

Authors:  M Swash; M S Schwartz; M C Apps
Journal:  J Neurol Sci       Date:  1985-04       Impact factor: 3.181
  7 in total
  4 in total

1.  Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey.

Authors:  Nesrin Karabul; Anika Skudlarek; Janine Berndt; Cornelia Kornblum; Rudolf A Kley; Stephan Wenninger; Nikolaus Tiling; Eugen Mengel; Ursula Plöckinger; Matthias Vorgerd; Marcus Deschauer; Benedikt Schoser; Frank Hanisch
Journal:  JIMD Rep       Date:  2014-08-26

Review 2.  The natural course of non-classic Pompe's disease; a review of 225 published cases.

Authors:  Léon P F Winkel; Marloes L C Hagemans; Pieter A van Doorn; M Christa B Loonen; Wim J C Hop; Arnold J J Reuser; Ans T van der Ploeg
Journal:  J Neurol       Date:  2005-08       Impact factor: 4.849

3.  Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

Authors:  Divya Ajay; Erin R McNamara; Stephanie Austin; John S Wiener; Priya Kishnani
Journal:  JIMD Rep       Date:  2015-11-05

4.  Glycogen accumulation in smooth muscle of a Pompe disease mouse model.

Authors:  Angela L McCall; Justin S Dhindsa; Aidan M Bailey; Logan A Pucci; Laura M Strickland; Mai K ElMallah
Journal:  J Smooth Muscle Res       Date:  2021
  4 in total

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