Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

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Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

P2860

Q55515392-11CD4583-25B1-4A4A-A6AF-FD7D8D2534D4

P2860

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

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2018年學術文章

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2018年學術文章

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name

Clinical, biochemical, and gen ...... hydratase (ECHS1) deficiency.

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Clinical, biochemical, and gen ...... hydratase (ECHS1) deficiency.

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type

Item

label

Clinical, biochemical, and gen ...... hydratase (ECHS1) deficiency.

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Clinical, biochemical, and gen ...... hydratase (ECHS1) deficiency.

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prefLabel

Clinical, biochemical, and gen ...... hydratase (ECHS1) deficiency.

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Clinical, biochemical, and gen ...... hydratase (ECHS1) deficiency.

@nl

P1476

Clinical, biochemical, and gen ...... hydratase (ECHS1) deficiency.

@en

P2093

Eilish Twomey

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Ellen Crushell

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Hans R Waterham

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James J Pitt

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Joanne Hughes

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Martine Tetreault

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Michael T Geraghty

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Penelope E Bonnen

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Peter O'Reilly

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Philip D Mayne

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P2860

Subacute necrotizing encephalomyelopathy in an infant

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

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1115-1127

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scholarly article

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10.1002/AJMG.A.38658

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English

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176

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Charlotte L Alston

Patricia E Fitzsimons

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2018-03-25T00:00:00Z

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29575569

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5947294

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Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

about

P2860

P2860

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

description

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P1433

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P1476

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