Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

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Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.

P2860

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P2860

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

@wuu

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

2017年學術文章

@zh-hant

name

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

@en

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

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type

Item

label

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

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Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

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prefLabel

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

@en

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

@nl

P1476

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

@en

P2093

Bwee Tien Poll-Thé

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Femke C C Klouwer

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

Hans R Waterham

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

Sacha Ferdinandusse

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

P2860

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Identification of PEX7 as the second gene involved in Refsum disease

Primary hyperoxalurias: disorders of glyoxylate detoxification

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.

Bile acid synthetic defects and liver disease.

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

P304

329-342

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scholarly article

P356

10.1007/978-1-4939-6937-1_30

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P407

English

P478

1595

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P50

Ronald J A Wanders

P577

2017-01-01T00:00:00Z

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

P698

28409475

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Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

about

P2860

P2860

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

description

name

type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P50

P577

P698