(Q34384562)

English

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

1 August 2017

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. (English)

1 reference

Europe PubMed Central

1 August 2017

author name string

G A Mitchell

1

1 reference

Europe PubMed Central

1 August 2017

P T Ozand

2

1 reference

Europe PubMed Central

1 August 2017

M F Robert

3

1 reference

Europe PubMed Central

1 August 2017

L Ashmarina

4

1 reference

Europe PubMed Central

1 August 2017

J Roberts

5

1 reference

Europe PubMed Central

1 August 2017

K M Gibson

6

1 reference

Europe PubMed Central

1 August 2017

R J Wanders

7

1 reference

Europe PubMed Central

1 August 2017

S Wang

8

1 reference

Europe PubMed Central

1 August 2017

I Chevalier

9

1 reference

Europe PubMed Central

1 August 2017

E Plöchl

10

1 reference

Europe PubMed Central

1 August 2017

H Miziorko

11

1 reference

Europe PubMed Central

1 August 2017

language of work or name

0 references

publication date

1 February 1998

1 reference

Europe PubMed Central

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

1 August 2017

62

1 reference

Europe PubMed Central

1 August 2017

295-300

1 reference

Europe PubMed Central

1 August 2017

2

1 reference

Europe PubMed Central

1 August 2017

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

Nucleotide sequence and expression in Escherichia coli of the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene of Pseudomonas mevalonii

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

6 July 2018

A 3-hydroxy-3-methylglutaryl-CoA lyase gene in the photosynthetic bacterium Rhodospirillum rubrum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376904

27 October 2018

3-Hydroxy-3-Methylglutaric Aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and characterization of avian liver 3-hydroxy-3-methylglutaryl coenzyme A lyase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463337

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34384562&oldid=1983571870"