Cochlear Implantation in Siblings With Refsum's Disease.

about

Cochlear Implantation in Siblings With Refsum's Disease.

Item

http://www.wikidata.org/entity/Q50308255

description

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

Cochlear Implantation in Siblings With Refsum's Disease.

@en

Cochlear Implantation in Siblings With Refsum's Disease.

@nl

type

Item

label

Cochlear Implantation in Siblings With Refsum's Disease.

@en

Cochlear Implantation in Siblings With Refsum's Disease.

@nl

prefLabel

Cochlear Implantation in Siblings With Refsum's Disease.

@en

Cochlear Implantation in Siblings With Refsum's Disease.

@nl

P1476

Cochlear Implantation in Siblings With Refsum's Disease.

@en

P2093

Alma Kuechler

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

Diana Arweiler-Harbeck

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

Judith Arnolds

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

Kerstin Stähr

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

Martin Gencik

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

Meaghan Dendy

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

Stephan Lang

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

P2860

Identification of PAHX, a Refsum disease gene

Identification of PEX7 as the second gene involved in Refsum disease

Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase

MutationTaster evaluates disease-causing potential of sequence alterations

Refsum's disease and cochlear implantation.

Cochlear implantation in Refsum's disease.

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease.

P304

611-614

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

P31

scholarly article

P356

10.1177/0003489417717269

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

P433

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

P478

126

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

P577

2017-07-01T00:00:00Z

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

P698

28681609

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

P921

sibling