(Q34515070)

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Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype

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scholarly article

1 reference

Europe PubMed Central

2 August 2017

Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype (English)

1 reference

Europe PubMed Central

2 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

7

object named as

Refsum H

1 reference

Europe PubMed Central

2 August 2017

Per Magne Ueland

2

object named as

Ueland PM

1 reference

Europe PubMed Central

2 August 2017

Anne Berit Guttormsen

1

object named as

Guttormsen AB

1 reference

Europe PubMed Central

2 August 2017

author name string

Kruger WD

3

1 reference

Europe PubMed Central

2 August 2017

Kim CE

4

1 reference

Europe PubMed Central

2 August 2017

Ose L

5

1 reference

Europe PubMed Central

2 August 2017

Følling I

6

1 reference

Europe PubMed Central

2 August 2017

publication date

1 May 2001

1 reference

Europe PubMed Central

2 August 2017

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

2 August 2017

100

1 reference

Europe PubMed Central

2 August 2017

3

1 reference

Europe PubMed Central

2 August 2017

204-213

1 reference

Europe PubMed Central

2 August 2017

Plasma homocysteine before and after methionine loading with regard to age, gender, and menopausal status

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Persistent hypermethioninaemia with dominant inheritance.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

HOMOCYSTINURIA: METABOLIC STUDIES ON 3 PATIENTS.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Plasma homocysteine as a risk factor for vascular disease. The European Concerted Action Project.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Kinetic basis of hyperhomocysteinemia in patients with chronic renal failure.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

The meaning and use of the area under a receiver operating characteristic (ROC) curve

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Cystathionine beta-synthase mutations in homocystinuria

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Basic principles of ROC analysis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Susceptibility to spina bifida; an association study of five candidate genes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Homocysteine and its disulfide derivatives: a suggested consensus terminology

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Homocysteine and cardiovascular disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Gender differences and other determinants of the rise in plasma homocysteine after L-methionine loading

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Maternal hyperhomocysteinemia: a risk factor for neural-tube defects?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Genetic causes of mild hyperhomocysteinemia in patients with premature occlusive coronary artery diseases.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

The effect of a subnormal vitamin B-6 status on homocysteine metabolism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

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%2FAJMG.1247

21 January 2018

Application of reversed-phase high-performance liquid chromatography using pre-column derivatization with o-phthaldialdehyde for the quantitative analysis of amino acids in adult and fetal sheep plasma, animal feeds and tissues

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1247

21 January 2018

Identifiers

10.1002/AJMG.1247

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

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