Classical homocystinuria: vascular risk and its prevention (Q34535870)

2 August 2017

Classical homocystinuria: vascular risk and its prevention (English)

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2 August 2017

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Yap S

1

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2 August 2017

1 January 2003

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Journal of Inherited Metabolic Disease

2 August 2017

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2 August 2017

26

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2 August 2017

259-265

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2 August 2017

2-3

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https://scigraph.springernature.com/pub.10.1023/a:1024497419821

2 August 2017

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cites work

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

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12 December 2020

Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study

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12 December 2020

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

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12 December 2020

Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control

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12 December 2020

Dietary treatment of homocystinuria

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12 December 2020

The identification of homocystine in the urine

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12 December 2020

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

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12 December 2020

Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency

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12 December 2020

Cystathionine beta-synthase mutations in homocystinuria

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12 December 2020

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

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12 December 2020

HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE

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12 December 2020

Homocysteine and its disulfide derivatives: a suggested consensus terminology

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12 December 2020

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

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12 December 2020

Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.

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12 December 2020

Plasma homocyst(e)ine or homocysteine?

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12 December 2020

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria

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12 December 2020

HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.

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12 December 2020

Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids

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12 December 2020

Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.

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12 December 2020

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

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12 December 2020

Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells

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12 December 2020

Early diagnosis and treatment of homocystinuria

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12 December 2020

Newborn screening for homocystinuria: Irish and world experience

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12 December 2020

Homocysteine theory of arteriosclerosis

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12 December 2020

HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

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12 December 2020

Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy

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12 December 2020

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

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12 December 2020

Molecular basis of phenotype expression in homocystinuria

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Crossref

https://api.crossref.org/works/10.1023%2FA%3A1024497419821

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1024497419821

1 reference

PubMed ID

12889665

Dimensions Publication ID

2 August 2017

0 references

1 reference

PubMed ID

12889665