(Q44602083)

4 December 2017

title

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

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4 December 2017

5

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4 December 2017

E Pospísilová

1

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4 December 2017

L Mrázová

series ordinal

2

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4 December 2017

J Hrdá

series ordinal

3

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4 December 2017

O Martincová

series ordinal

4

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4 December 2017

publication date

1 January 2003

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Journal of Inherited Metabolic Disease

4 December 2017

published in

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4 December 2017

volume

26

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4 December 2017

issue

5

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4 December 2017

page(s)

433-441

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

4 December 2017

cites work

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Measurement of protein using bicinchoninic acid

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12 December 2020

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

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

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: biochemical studies and family investigation of four generations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

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

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12 December 2020

A new case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

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12 December 2020

Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.

1 reference

12 December 2020

Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography

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12 December 2020

Identifiers

DOI

10.1023/A:1025169210121

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Dimensions Publication ID

4 December 2017

1049805532

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