A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

about

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.

P2860

Q39314157-32B35CC1-BB62-4E1B-B536-2520922BC73C Q47758040-F0D3FF1B-0904-4D80-9937-6A09F64C23FB

P2860

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

Item

http://www.wikidata.org/entity/Q40798605

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh

2015年學術文章

@zh-hant

name

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

@en

type

Item

label

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

@en

prefLabel

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

@en

P1476

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

@en

P2093

Barbka Repic Lampret

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

Marusa Debeljak

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

Mojca Zerjav Tansek

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

Petja Fister

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

Simona Murko

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

P2860

Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

Short-chain acyl-coenzyme A dehydrogenase deficiency

Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience

Metabolic heritability at birth: implications for chronic disease research.

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.

Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.

P304

279-284

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

P31

scholarly article

case report

P356

10.11613/BM.2015.029

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

P433

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

P478

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

P50

Tadej Battelino

P577

2015-06-05T00:00:00Z

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

P5875

279160746

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

P698

26110041

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

P932

4470102

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

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

about

P2860

P2860

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932