(Q41650566)

6 October 2017

title

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form (English)

1 reference

6 October 2017

1

Verloes A

1 reference

6 October 2017

M. Massin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9382133

26 November 2024

J. Lombet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9382133

26 November 2024

B. Grattagliano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9382133

26 November 2024

D. Soyeur

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9382133

26 November 2024

J. Rigo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9382133

26 November 2024

L. Koulischer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9382133

26 November 2024

F. Van Hoof

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9382133

26 November 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=9382133

26 November 2024

publication date

1 October 1997

1 reference

6 October 2017

17 October 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9382133

full work available at URL

26 November 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1096-8628(19971017)72:2%3C135::AID-AJMG3%3E3.0.CO;2-U

1 reference

10.1002/(SICI)1096-8628(19971017)72:2<135::AID-AJMG3>3.0.CO;2-U

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971017)72:2%3C135::AID-AJMG3%3E3.0.CO;2-U

https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1096-8628(19971017)72:2%3C135::AID-AJMG3%3E3.0.CO;2-U

26 November 2024

1 reference

10.1002/(SICI)1096-8628(19971017)72:2<135::AID-AJMG3>3.0.CO;2-U

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971017)72:2%3C135::AID-AJMG3%3E3.0.CO;2-U

American Journal of Medical Genetics Part A

26 November 2024

published in

1 reference

6 October 2017

volume

72

1 reference

6 October 2017

issue

2

1 reference

6 October 2017

page(s)

135-142

1 reference

Lysosomal glycogen storage disease with normal acid maltase

6 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971017%2972%3A2%3C135%3A%3AAID-AJMG3%3E3.0.CO%3B2-U

Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

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Lysosomal glycogen storage disease without acid maltase deficiency

21 January 2018

1 reference

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Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops

21 January 2018

2

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Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy

26 November 2024

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Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels

26 November 2024

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Uncommon case of type II glycogenosis

26 November 2024

8

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Rodent and human acid -glucosidase. Purification, properties and inhibition by antibodies. Investigation in type II glycogenosis

26 November 2024

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Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

26 November 2024

10

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Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease

26 November 2024

11

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Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase

26 November 2024

12

1 reference

10.1002/(SICI)1096-8628(19971017)72:2<135::AID-AJMG3>3.0.CO;2-U

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Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors

26 November 2024

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Bulletin of the Johns Hopkins Hospital

26 November 2024

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Lysosomal storage diseases

26 November 2024

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Annual Review of Biochemistry

26 November 2024

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Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

26 November 2024

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Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis

26 November 2024

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1 reference

10.1002/(SICI)1096-8628(19971017)72:2<135::AID-AJMG3>3.0.CO;2-U

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Glycogen storage disease with normal acid maltase: skeletal and cardiac muscles

26 November 2024

26

1 reference

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Complete heart block with myocardial membrane-bound glycogen and normal peripheral alpha-glucosidase activity

26 November 2024

27

1 reference

10.1002/(SICI)1096-8628(19971017)72:2<135::AID-AJMG3>3.0.CO;2-U

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971017)72:2%3C135::AID-AJMG3%3E3.0.CO;2-U

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26 November 2024

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10.1002/(SICI)1096-8628(19971017)72:2<135::AID-AJMG3>3.0.CO;2-U

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26 November 2024

Identifiers

10.1002/(SICI)1096-8628(19971017)72:2<135::AID-AJMG3>3.0.CO;2-U

1 reference

6 October 2017

1 reference