(Q51457899)

5 April 2018

title

Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America. (English)

1 reference

5 April 2018

hyperlipidemia due to hepatic triglyceride lipase deficiency

main subject

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3-hydroxy-3-methylglutaryl-CoA lyase deficiency

inferred from title

1 reference

C R Vargas

1

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5 April 2018

A Sitta

2

1 reference

5 April 2018

G Schmitt

3

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5 April 2018

G C Ferreira

4

1 reference

5 April 2018

M L Cardoso

5

1 reference

5 April 2018

D Coelho

6

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5 April 2018

K M Gibson

7

1 reference

5 April 2018

M Wajner

8

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5 April 2018

publication date

17 December 2007

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5 April 2018

Journal of Inherited Metabolic Disease

published in

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5 April 2018

volume

31 Suppl 3

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5 April 2018

page(s)

511-515

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5 April 2018

https://scigraph.springernature.com/pub.10.1007/s10545-007-0756-y

exact match

0 references

cites work

Anaplerotic molecules: current and future

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

Disorders of ketone production and utilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

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 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

Molecular genetics of HMG-CoA lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

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 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

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 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0756-Y

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

21 January 2018

1 reference

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Detection of Organic Acidemias in Brazil

21 January 2018

1 reference

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

LCGreen I-based real-time PCR assays for detecting common ASL and HMGCL variants

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

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

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

1 reference

12 December 2020

A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

12 December 2020

10.1007/S10545-007-0756-Y

Identifiers

DOI

1 reference

5 April 2018

PubMed ID

18080783

1 reference

5 April 2018