A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency (Q34019705)

30 July 2017

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title

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency (English)

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30 July 2017

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1

Flemming Skovby

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S. Harvey Mudd

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3

object named as

S Harvey Mudd

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30 July 2017

Mette Gaustadnes

2

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30 July 2017

1 January 2010

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Molecular Genetics and Metabolism

30 July 2017

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30 July 2017

99

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30 July 2017

1-3

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30 July 2017

1

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Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

Birth prevalence of homocystinuria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine beta-synthase gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

Prevalence of congenital homocystinuria in Denmark.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795104

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

29 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.009

Molecular neonatal screening for homocystinuria in the Qatari population

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.009

10.1016/J.YMGME.2009.09.009

7 January 2021

Identifiers

DOI

1 reference

30 July 2017

1 reference

30 July 2017

1 reference

PubMed ID

19819175