Myopathy due to acid maltase deficiency. Pompe's disease in adolescence and adult (author's transl) (Q69042678)

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29 September 2019

title

Myopathie bei Saure-Maltase-Mangel (German)

marking inconsistent with the registered/official identifier/name

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reason for deprecated rank

30 January 2023

Myopathy due to acid maltase deficiency. Pompe's disease in adolescence and adult (author's transl) (English)

marking inconsistent with the registered/official identifier/name

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author name string

H. W. Kölmel

series ordinal

1

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H. Assmus

series ordinal

2

1 reference

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D. Seiler

series ordinal

3

1 reference

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language of work or name

German

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National Center for Biotechnology Information

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publication date

1 January 1974

1 reference

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full work available at URL

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http://link.springer.com/content/pdf/10.1007/BF00343162.pdf

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http://link.springer.com/article/10.1007/BF00343162/fulltext.html

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http://link.springer.com/content/pdf/10.1007/BF00343162

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Archiv fur Psychiatrie und Nervenkrankheiten

30 January 2023

published in

218

2

93–106

1974

1 reference

National Center for Biotechnology Information

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volume

218

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issue

2

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page(s)

93-106

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α-1,4-Glucosidase activity in leucocytes and lymphocytes of 2 adult patients with glycogen-storage disease type II, (Pompe's disease)

29 September 2019

cites work

1 reference

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Pre-clinical muscular dystrophy: histopathological changes observed on muscle biopsy

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Amylo-1, 6-glucosidase in muscle tissue in generalized glycogen storage disease

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CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY

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Correlation between electromyographic findings and muscle biopsy in cases of neuromuscular disease

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alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

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Adult myopathy from glycogen storage disease due to acid maltase deficiency

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12 December 2020

Spontaneous electrical activity in muscle. Description of two patients with motor neurone disease

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12 December 2020

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

1 reference

12 December 2020

The myotonic discharge in various neurological syndromes: a neurophysiological analysis.

1 reference

12 December 2020

Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types

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12 December 2020

Late Infantile Acid Maltase Deficiency

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12 December 2020

Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls

1 reference

12 December 2020

A mild form of muscular glycogenosis in two brothers with alpha-1, 4-glucosidase deficiency

1 reference

12 December 2020

Muscular glycogenosis caused by alpha-1,4-glucosidase deficiency simulating progressive muscular dystrophy. (Clinical and enzyme study. Optic and electron microscopy)

1 reference

12 December 2020

A MYOPATHY PRESENTING IN ADULT LIFE WITH FEATURES SUGGESTIVE OF GLYCOGEN STORAGE DISEASE.

1 reference

12 December 2020

VACUOLAR MYOPATHY: CLINICAL, HISTOCHEMICAL, AND MICROSCOPIC STUDY.

1 reference

12 December 2020

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

1 reference

12 December 2020

Skeletal muscle glycogenosis: an investigation of two dissimilar cases

1 reference

12 December 2020

Muscular glycogenosis of myopathic form caused by acid maltase deficiency

1 reference

12 December 2020

The spectrum and diagnosis of acid maltase deficiency.

1 reference

12 December 2020

Glycogenic myopathy. A case of skeletal muscle-glycogenosis in twins

1 reference

12 December 2020

Journal of Biological Chemistry

17

218

213

B. Illingworth

1958

1 reference

30 January 2023

Identifiers

DOI

10.1007/BF00343162

1 reference

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29 September 2019

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