Severe early onset ethylmalonic encephalopathy with West syndrome.

about

Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.

P2860

Q40984450-B1B99925-8F98-43E3-B251-248D13AEA0EE Q47959008-20FCAAAA-0F6E-4D71-913F-432D57A3636D Q48434984-6BA6DCB9-B24E-4C19-B169-AC2F360E3A33

P2860

Severe early onset ethylmalonic encephalopathy with West syndrome.

Item

http://www.wikidata.org/entity/Q40715356

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Severe early onset ethylmalonic encephalopathy with West syndrome.

@en

type

Item

label

Severe early onset ethylmalonic encephalopathy with West syndrome.

@en

prefLabel

Severe early onset ethylmalonic encephalopathy with West syndrome.

@en

P1476

Severe early onset ethylmalonic encephalopathy with West syndrome.

@en

P2093

Alberto Spalice

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

Laura Papetti

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

Livia Schettini

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

Paola Papoff

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

P2860

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Clinical heterogeneity in ethylmalonic encephalopathy

Ethylmalonic encephalopathy: clinical and biochemical observations

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

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

P2888

s11011-015-9707-8

P304

1537-1545

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

P31

scholarly article

P356

10.1007/S11011-015-9707-8

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

P433

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

P478

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

P50

P577

2015-07-21T00:00:00Z

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

P5875

280329428

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

P6179

1035876351

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

P698

26194623

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

Severe early onset ethylmalonic encephalopathy with West syndrome.

about

P2860

P2860

Severe early onset ethylmalonic encephalopathy with West syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P6179

P698