(Q42930495)

11 November 2017

title

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70 (English)

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2010.07.012

3-methylglutaconic aciduria

20 June 2024

main subject

1 reference

5

Jeffrey A Towbin

1 reference

11 November 2017

Fang-Yuan Li

2

1 reference

11 November 2017

Jing Wang

3

1 reference

11 November 2017

Hongli Zhan

4

1 reference

11 November 2017

John Lynn Jefferies

6

1 reference

11 November 2017

Lee-Jun Wong

7

1 reference

11 November 2017

Fernando Scaglia

8

1 reference

11 November 2017

Oleg A. Shchelochkov

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20728387

20 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20728387

20 June 2024

publication date

24 July 2010

1 reference

full work available at URL

11 November 2017

https://api.elsevier.com/content/article/PII:S109671921000274X?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2010.07.012

https://api.elsevier.com/content/article/PII:S109671921000274X?httpAccept=text/plain

20 June 2024

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2010.07.012

Molecular Genetics and Metabolism

20 June 2024

published in

1 reference

11 November 2017

volume

101

1 reference

11 November 2017

issue

2-3

1 reference

11 November 2017

page(s)

282-285

1 reference

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

11 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

TMEM70 protein — A novel ancillary factor of mammalian ATP synthase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Detection of mitochondrial DNA mutations using temporal temperature gradient gel electrophoresis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

SIFT: Predicting amino acid changes that affect protein function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Predicting the pathogenicity of RPE65 mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Human non-synonymous SNPs: server and survey

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.012

7 January 2021

Identifiers

1 reference

11 November 2017

1 reference