Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype (Q34543445)

2 August 2017

title

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype (English)

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2 August 2017

Kruger WD

1

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2 August 2017

Wang L

2

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2 August 2017

Jhee KH

3

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2 August 2017

Singh RH

4

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2 August 2017

Elsas LJ 2nd

5

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2 August 2017

publication date

1 December 2003

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2 August 2017

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2 August 2017

volume

22

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2 August 2017

issue

6

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2 August 2017

page(s)

434-441

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Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

Characterization of Mutations in the Cystathionine β-Synthase Gene in Irish Patients with Homocystinuria

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

Prevalence of congenital homocystinuria in Denmark.

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

Studies on cystathionine synthase of rat liver properties of the highly purified enzyme

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

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.

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

Cystathionine beta-synthase mutations in homocystinuria

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.10290

7 January 2021

Identifiers

DOI

10.1002/HUMU.10290

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2 August 2017

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