(Q83953166)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

2

1 reference

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29 January 2020

author name string

Paul J M Savelkoul

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Susan E Sparks

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Carla Ciccone

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

William A Gahl

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Donna M Krasnewich

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Marjan Huizing

7

1 reference

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29 January 2020

publication date

9 June 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

29 January 2020

published in

1 reference

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29 January 2020

volume

88

1 reference

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29 January 2020

issue

4

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29 January 2020

page(s)

389-390

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

The analysis of human serum transferrins with the PhastSystem: quantitation of microheterogeneity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.011

10.1016/J.YMGME.2006.04.011

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16762577%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference