The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. (Q34390750)

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English	The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.	scientific article

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8 December 2019

The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment (English)

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8 December 2019

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8 December 2019

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Kluijtmans LA

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8 December 2019

Boers GH

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8 December 2019

Kraus JP

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8 December 2019

van den Heuvel LP

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8 December 2019

Cruysberg JR

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8 December 2019

Trijbels FJ

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8 December 2019

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1 July 1999

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8 December 2019

American Journal of Human Genetics

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8 December 2019

65

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8 December 2019

59-67

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8 December 2019

1

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8 December 2019

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

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Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

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6 July 2018

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency

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6 July 2018

The natural history of vascular disease in homocystinuria and the effects of treatment

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6 July 2018

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

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6 July 2018

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene

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6 July 2018

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system

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6 July 2018

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria

1 reference

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6 July 2018

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations

1 reference

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6 July 2018

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype

1 reference

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6 July 2018

High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients

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Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years

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Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria

1 reference

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Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin

1 reference

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6 July 2018

Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.

1 reference

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6 July 2018

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

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6 July 2018

The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17

1 reference

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

1 reference

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6 July 2018

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency

1 reference

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6 July 2018

Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits

1 reference

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6 July 2018

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts

1 reference

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6 July 2018

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease

1 reference

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Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis

1 reference

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Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria

1 reference

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Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis

1 reference

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HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE

1 reference

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1 reference

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12 December 2020

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inferred from PubMed ID database lookup

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8 December 2019

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Europe PubMed Central

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8 December 2019

1 reference

Europe PubMed Central

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8 December 2019

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