PMM2-CDG and sensorineural hearing loss.

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PMM2-CDG and sensorineural hearing loss.

Item

http://www.wikidata.org/entity/Q50307397

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

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

PMM2-CDG and sensorineural hearing loss.

@en

PMM2-CDG and sensorineural hearing loss.

@nl

type

Item

label

PMM2-CDG and sensorineural hearing loss.

@en

PMM2-CDG and sensorineural hearing loss.

@nl

prefLabel

PMM2-CDG and sensorineural hearing loss.

@en

PMM2-CDG and sensorineural hearing loss.

@nl

P1476

PMM2-CDG and sensorineural hearing loss

@en

P2093

Deniz Yüksel

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Jaak Jaeken

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Lies Keldermans

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

Mustafa Kılıç

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Zeren Barış

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

Çiğdem Seher Kasapkara

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P2860

ALG11-CDG: Three novel mutations and further characterization of the phenotype.

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.

Disialotransferrin developmental deficiency syndrome

Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.

Hearing Impairment in 2008: a compilation of available epidemiological studies.

Ophthalmic findings in an infant with phosphomannomutase deficiency.

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

P2888

s10545-017-0073-z

P304

629-630

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P31

scholarly article

P356

10.1007/S10545-017-0073-Z

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P433

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

P478

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P50

Gert Matthijs

P577

2017-07-31T00:00:00Z

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P698

28762107

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