(Q24532034)

4 July 2017

0 references

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene (English)

1 reference

4 July 2017

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene (English)

1 reference

24 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696021

24 December 2023

1 reference

24 December 2023

11

Ronald J A Wanders

1 reference

4 July 2017

5

Bwee Tien Poll-The

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696021

24 December 2023

9

Jörn Oliver Sass

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696021

24 December 2023

author name string

Rob Ofman

1

1 reference

4 July 2017

Marike Feenstra

3

1 reference

4 July 2017

Marinus Duran

4

1 reference

4 July 2017

Johannes Zschocke

6

1 reference

4 July 2017

Regina Ensenauer

7

1 reference

4 July 2017

Willy Lehnert

8

1 reference

4 July 2017

Wolfgang Sperl

10

1 reference

4 July 2017

Jos P. N. Ruiter

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696021

24 December 2023

language of work or name

English

0 references

publication date

14 April 2003

1 reference

full work available at URL

4 July 2017

http://www.cell.com/article/S0002929707606582/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696021

https://europepmc.org/articles/PMC1180283

24 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696021

https://europepmc.org/articles/PMC1180283?pdf=render

24 December 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696021

https://api.elsevier.com/content/article/PII:S0002929707606582?httpAccept=text/xml

24 December 2023

1 reference

https://api.elsevier.com/content/article/PII:S0002929707606582?httpAccept=text/plain

24 December 2023

1 reference

American Journal of Human Genetics

24 December 2023

published in

1 reference

4 July 2017

72

1 reference

4 July 2017

1300-1307

1 reference

4 July 2017

5

1 reference

An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Mass Spectrometric Sequencing of Proteins from Silver-Stained Polyacrylamide Gels

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Deposition of Alzheimer's vascular amyloid-beta is associated with decreased expression of brain L-3-hydroxyacyl-coenzyme A dehydrogenase (ERAB)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase is a single-domain multifunctional enzyme. Characterization of a novel 17beta-hydroxysteroid dehydrogenase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Cloning and expression of cDNA for a newly identified isozyme of bovine liver 3-hydroxyacyl-CoA dehydrogenase and its import into mitochondria

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Fatty acid oxidation disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Newly identified Chinese hamster ovary cell mutants defective in peroxisome assembly represent complementation group A of human peroxisome biogenesis disorders and one novel group in mammals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Role of ERAB/L-3-hydroxyacyl-coenzyme A dehydrogenase type II activity in Abeta-induced cytotoxicity.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180283

Improvement and simplification of low-background silver staining of proteins by using sodium dithionite

29 November 2018

1 reference

12 December 2020

Short-chain 3-hydroxy-2-methylacyl-CoA dehydrogenase from rat liver: purification and characterization of a novel enzyme of isoleucine metabolism

1 reference

12 December 2020

Mitochondrial beta-oxidation of 2-methyl fatty acids in rat liver

1 reference

12 December 2020

Two mitochondrial 3-hydroxyacyl-CoA dehydrogenases in bovine liver

1 reference

12 December 2020

Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients

1 reference

12 December 2020

Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyria

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F375116

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/375116

1 reference

4 July 2017

0 references

1 reference