Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population (Q33266841)

24 July 2017

Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population (English)

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3-hydroxy-3-methylglutaryl-CoA lyase deficiency

24 July 2017

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Brian F Meyer

5

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author name string

Moeenaldeen Al-Sayed

1

1 reference

24 July 2017

Faiqa Imtiaz

2

1 reference

24 July 2017

Osama A Alsmadi

3

1 reference

24 July 2017

Mohammed S Rashed

4

1 reference

24 July 2017

16 December 2006

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24 July 2017

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24 July 2017

7

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24 July 2017

86

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https://scigraph.springernature.com/pub.10.1186/1471-2350-7-86

24 July 2017

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cites work

Comprehensive human genome amplification using multiple displacement amplification

1 reference

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Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency

21 June 2018

1 reference

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3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1764877

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

21 June 2018

1 reference

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A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1764877

Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus

21 June 2018

1 reference

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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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1764877

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1764877

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1764877

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1764877

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1764877

3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1764877

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

21 June 2018

1 reference

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3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1764877

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-7-86

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-7-86

Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-7-86

The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-7-86

1 reference

24 July 2017

1 reference

24 July 2017

1 reference