(Q48513516)

12 February 2018

title

Ethylmalonic encephalopathy associated with crescentic glomerulonephritis (English)

1 reference

12 February 2018

ethylmalonic encephalopathy

1 reference

1 reference

Imad Dweikat

1

1 reference

12 February 2018

Enas Naser

2

1 reference

12 February 2018

Nadera Damsah

3

1 reference

12 February 2018

Bassam Abu Libdeh

4

1 reference

12 February 2018

Izzeddin Bakri

5

1 reference

12 February 2018

publication date

15 May 2012

1 reference

12 February 2018

published in

Metabolic Brain Disease

1 reference

12 February 2018

volume

27

1 reference

12 February 2018

issue

4

1 reference

12 February 2018

page(s)

613-616

1 reference

12 February 2018

https://scigraph.springernature.com/pub.10.1007/s11011-012-9313-y

exact match

0 references

cites work

Clinical spectrum and outcome of crescentic glomerulonephritis in children in developing countries

1 reference

https://api.crossref.org/works/10.1007%2FS11011-012-9313-Y

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-012-9313-Y

Clinical heterogeneity in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-012-9313-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-012-9313-Y

ETHE1 mutations are specific to ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-012-9313-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-012-9313-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-012-9313-Y

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22584649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Incidence and prognostic importance of glomerular crescents in renal diseases of childhood

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22584649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S11011-012-9313-Y

1 reference

12 February 2018

1 reference

12 February 2018