Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.

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ALG8-CDG: novel patients and review of the literature.29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

P2860

Q27687442-C5399415-E223-4545-9288-5F72C6EC49CD Q34700719-C00BA3CC-4A79-41F8-9226-3538C58EA78B

P2860

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.

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http://www.wikidata.org/entity/Q38187717

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article scientifique

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artikel ilmiah

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Defining the phenotype and dia ...... ers of N-linked glycosylation.

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Defining the phenotype and dia ...... ers of N-linked glycosylation.

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Defining the phenotype and dia ...... ers of N-linked glycosylation.

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P1476

Defining the phenotype and dia ...... ers of N-linked glycosylation.

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David F G J Wolthuis

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Dirk J Lefeber

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Eva Morava

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Miriam C Janssen

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P2860

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

TMEM165 deficiency causes a congenital disorder of glycosylation

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

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)

Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

P304

217-224

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scholarly article

P356

10.1586/14737159.2014.890052

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David Cassiman

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2014-02-13T00:00:00Z

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260194458

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24524732

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P921

birth defect

glycosylation

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.

about

P2860

P2860

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.

description

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P1476

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P2860

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