(Q41768656)

English

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

scientific article published on 31 October 2008

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18950795%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18950795%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Jitka Sokolová

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18950795%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Bohumila Janosíková

3

1 reference

Europe PubMed Central

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25 December 2019

4

1 reference

Europe PubMed Central

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25 December 2019

6

1 reference

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25 December 2019

author name string

Miroslav Janosík

1

1 reference

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25 December 2019

Veronika Klatovská

5

1 reference

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25 December 2019

language of work or name

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publication date

31 October 2008

1 reference

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25 December 2019

The Journal of Pediatrics

1 reference

Europe PubMed Central

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25 December 2019

154

1 reference

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25 December 2019

3

1 reference

Europe PubMed Central

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25 December 2019

431-437

1 reference

Europe PubMed Central

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25 December 2019

Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

Birth prevalence of homocystinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

Structural insights into mutations of cystathionine beta-synthase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

Reduction of false negative results in screening of newborns for homocystinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

Newborn screening for homocystinuria: Irish and world experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

Correcting temperature-sensitive protein folding defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

6 June 2018

Blood spot homocysteine: a feasibility and stability study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

18 August 2018

Screening for serum total homocysteine in newborn children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

18 August 2018

Isolated thrombosis due to the cystathionine β‐synthase mutation c.833T>C (I278T)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

18 August 2018

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

18 August 2018

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

18 August 2018

Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

18 August 2018

Prevalence of congenital homocystinuria in Denmark.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653617

18 August 2018

Cystathionine beta-synthase (human)

1 reference

https://pubmed.ncbi.nlm.nih.gov/18950795

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18950795

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JPEDS.2008.09.015

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18950795%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18950795%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18950795%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

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