Oral D-galactose supplementation in PGM1-CDG.

about

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).Nutrition and Liver Disease.The role of the clinician in the multi-omics era: are you ready?CDG Therapies: From Bench to Bedside.Clinical glycomics for the diagnosis of congenital disorders of glycosylation.

P2860

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P2860

Oral D-galactose supplementation in PGM1-CDG.

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http://www.wikidata.org/entity/Q47106452

description

2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Oral D-galactose supplementation in PGM1-CDG.

@en

Oral D-galactose supplementation in PGM1-CDG.

@nl

type

Item

label

Oral D-galactose supplementation in PGM1-CDG.

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Oral D-galactose supplementation in PGM1-CDG.

@nl

prefLabel

Oral D-galactose supplementation in PGM1-CDG.

@en

Oral D-galactose supplementation in PGM1-CDG.

@nl

P1476

Oral D-galactose supplementation in PGM1-CDG

@en

P2093

Amanda M Ackermann

http://www.w3.org/2001/XMLSchema#string

Christian Thiel

http://www.w3.org/2001/XMLSchema#string

Dieter Koch

http://www.w3.org/2001/XMLSchema#string

Dirk J Lefeber

http://www.w3.org/2001/XMLSchema#string

Eva Morava

http://www.w3.org/2001/XMLSchema#string

Francis Bowling

http://www.w3.org/2001/XMLSchema#string

Francois Foulquier

http://www.w3.org/2001/XMLSchema#string

Gernot Poschet

http://www.w3.org/2001/XMLSchema#string

Graeme Preston

http://www.w3.org/2001/XMLSchema#string

Hana Hansikova

http://www.w3.org/2001/XMLSchema#string

P2860

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function

P2888

gim.2017.41

P304

1226-1235

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scholarly article

P356

10.1038/GIM.2017.41

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P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Nurulamin Abu Bakar

J Sykut-Cegielska

David Do Nguyen

P577

2017-06-15T00:00:00Z

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P698

28617415

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P932

5675745

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Oral D-galactose supplementation in PGM1-CDG.

about

P2860

P2860

Oral D-galactose supplementation in PGM1-CDG.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

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P31

P356

P407

P433

P478

P50

P577

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P356

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P2860

P2888

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P31

P356

P407

P433

P478

P50

P577

P698

P932