(Q39849073)

15 September 2017

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title

Recent advances in the mechanism of pyridoxine-responsive disorders (English)

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15 September 2017

Fowler B

1

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15 September 2017

publication date

1 January 1985

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Journal of Inherited Metabolic Disease

15 September 2017

published in

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15 September 2017

volume

8 Suppl 1

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15 September 2017

page(s)

76-83

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Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts

15 September 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01800664

Stabilization of rat liver tyrosine aminotransferase in vivo by pyridoxine administration

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01800664

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

21 January 2018

1 reference

12 December 2020

Cystathionine beta-synthase deficiency: differences in thermostability between normal and abnormal enzyme from cultured human cells

1 reference

12 December 2020

Plasma content of B6 vitamers and its relationship to hepatic vitamin B6 metabolism

1 reference

12 December 2020

Homocystinuria: Studies in Tissue Culture

1 reference

12 December 2020

Cystathioninuria: nature of the defect

1 reference

12 December 2020

Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA

1 reference

12 December 2020

Transport and Metabolism of Pyridoxal and Pyridoxal Phosphate in the Small Intestine of the Rat

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12 December 2020

Metabolism of vitamin B6 in rat liver mitochondria.

1 reference

12 December 2020

Vitamin B6 dependent xanthurenic aciduria (the second report)

1 reference

12 December 2020

Depletion of cultured human fibroblasts of pyridoxal 5'-phosphate: effect on activities of aspartate aminotransferase, alanine aminotransferase, and cystathionine beta-synthase

1 reference

12 December 2020

Plasma binding of vitamin B6 compounds

1 reference

12 December 2020

Transport and metabolism of pyridoxine in rat liver

1 reference

12 December 2020

On the Mechanism of Pyridoxine Responsive Homocystinuria. II. Properties of Normal and Mutant Cystathionine β-Synthase from Cultured Fibroblasts

1 reference

12 December 2020

Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.

1 reference

12 December 2020

A versatile cation-exchange procedure of measuring the seven major forms of vitamin B6 in biological samples

1 reference

12 December 2020

Vitamin B6 deficiency and dependency in man.

1 reference

12 December 2020

Transport and Metabolism of Pyridoxamine and Pyridoxamine Phosphate in the Small Intestine of the Rat

1 reference

12 December 2020

Studies of the mechanism of pyridoxine-responsive homocystinuria

1 reference

12 December 2020

Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria

1 reference

12 December 2020

The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations

1 reference

12 December 2020

Cystathionase Deficiency: Evidence for Genetic Heterogeneity in Primary Cystathioninuria

1 reference

12 December 2020

Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.

1 reference

12 December 2020

Stability of some Pyridoxal Phosphate-dependent Enzymes in Vitamin B-6 Deficient Rats

1 reference

12 December 2020

Pyridoxine-dependent seizures

1 reference

12 December 2020

Transport and accumulation of pyridoxine and pyridoxal by erythrocytes

1 reference

12 December 2020

Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina

1 reference

12 December 2020

Regulation of aspartate aminotransferase activity associated with change of pyridoxal phosphate level

1 reference

12 December 2020

Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6.

1 reference

12 December 2020

Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6

1 reference

12 December 2020

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts

1 reference

12 December 2020

Inactivation of cystathionase and of cysteine sulfinic acid decarboxylase by proteolytic enzymes: Effect of pyridoxal phosphate

1 reference

12 December 2020

Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy

1 reference

12 December 2020

Pyridoxine dependent seizures--a wider clinical spectrum

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12 December 2020

Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies

1 reference

12 December 2020

Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01800664

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15 September 2017

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