Congenital disorders of glycosylation: The Saudi experience.

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Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.

P2860

Q55332326-5C73C98F-BA29-4DAC-B165-C613D9D2A3C7

P2860

Congenital disorders of glycosylation: The Saudi experience.

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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

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2017年学术文章

@zh-hans

2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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name

Congenital disorders of glycosylation: The Saudi experience.

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Congenital disorders of glycosylation: The Saudi experience.

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type

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label

Congenital disorders of glycosylation: The Saudi experience.

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Congenital disorders of glycosylation: The Saudi experience.

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prefLabel

Congenital disorders of glycosylation: The Saudi experience.

@en

Congenital disorders of glycosylation: The Saudi experience.

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P1476

Congenital disorders of glycosylation: The Saudi experience.

@en

P2093

Abdullah Alfaifi

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Adel Mahmoud

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

Ali Alasmari

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Amal Alhashem

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Eissa Faqeih

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Fuad Al Mutairi

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Hanem Abduraouf

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Hesham Aldhalaan

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Khalid Hundallah

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

Layan AlRasheed

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P2860

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

Neurological aspects of human glycosylation disorders

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Congenital disorders of glycosylation

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.

Further Delineation of the ALG9-CDG Phenotype.

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Congenital disorders of glycosylation: new defects and still counting.

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.

P304

2614-2621

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scholarly article

P356

10.1002/AJMG.A.38358

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P407

English

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P478

173

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P50

Fowzan S Alkuraya

Brahim Tabarki

P577

2017-07-25T00:00:00Z

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P698

28742265

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P921

glycosylation

Congenital disorders of glycosylation: The Saudi experience.

about

P2860

P2860

Congenital disorders of glycosylation: The Saudi experience.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921