CDG Therapies: From Bench to Bedside.

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CDG Therapies: From Bench to Bedside.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

@wuu

2018年学术文章

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2018年学术文章

@zh-cn

2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

CDG Therapies: From Bench to Bedside.

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CDG Therapies: From Bench to Bedside.

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CDG Therapies: From Bench to Bedside.

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CDG Therapies: From Bench to Bedside.

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CDG Therapies: From Bench to Bedside.

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CDG Therapies: From Bench to Bedside.

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P1476

CDG Therapies: From Bench to Bedside.

@en

P2093

Eva Morava

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

Jaak Jaeken

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

Vanessa Dos Reis Ferreira

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P275

Creative Commons Attribution

P2860

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

Slc35c2 promotes Notch1 fucosylation and is required for optimal Notch signaling in mammalian cells

UDP-N-acetylglucosamine transporter and UDP-galactose transporter form heterologous complexes in the Golgi membrane

Expression and characterization of a human cDNA ...

Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

P31

scholarly article

review article

P356

10.3390/IJMS19051304

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P407

English

P433

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

P478

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

P50

Dorinda Marques-da-Silva

Carlota Pascoal

P5008

ScienceSource

P577

2018-04-27T00:00:00Z

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P698

29702557

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P921

congenital disorder of glycosylation

biomedical investigative technique

P932

5983582

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