(Q71853034)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603531%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

review article

1 reference

title

Genetic defects in patients with glycogenosis type II (acid maltase deficiency) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603531%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

3

C. Boerkoel

1 reference

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8 June 2024

author name string

N. Raben

1

1 reference

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8 June 2024

R. C. Nichols

2

1 reference

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8 June 2024

P. Plotz

4

1 reference

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8 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7603531

8 June 2024

publication date

1 January 1995

1 reference

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full work available at URL

21 October 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.880181415

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

https://onlinelibrary.wiley.com/doi/full/10.1002/mus.880181415

8 June 2024

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Muscle & nerve. Supplement

8 June 2024

published in

volume

3

page(s)

S70-4

publication date

1995

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7603531

8 June 2024

volume

3

1 reference

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21 October 2019

page(s)

S70-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603531%20AND%20SRC:MED&resulttype=core&format=json

Archives francaises de pediatrie

21 October 2019

cites work

5

22

1153

Courtecuissf

1965

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Genetics of type II glycogenosis: Assignment of the human gene for acid α-glucosidase to chromosome 17

8 June 2024

6

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

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

8 June 2024

7

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

The spectrum and diagnosis of acid maltase deficiency.

8 June 2024

9

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

8 June 2024

11

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

8 June 2024

12

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.

8 June 2024

14

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks

8 June 2024

15

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites

8 June 2024

16

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Characterization of the human lysosomal alpha-glucosidase gene

8 June 2024

19

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Adult myopathy from glycogen storage disease due to acid maltase deficiency

8 June 2024

20

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

8 June 2024

21

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

8 June 2024

22

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Trafficking of lysosomal enzymes in normal and disease states

8 June 2024

23

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase

8 June 2024

25

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients

8 June 2024

27

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele

8 June 2024

28

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences

8 June 2024

29

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method

8 June 2024

31

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization

8 June 2024

33

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

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

8 June 2024

35

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease)

8 June 2024

36

1 reference

https://api.crossref.org/works/10.1002/MUS.880181415

8 June 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7603531%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference