(Q36501317)

14 August 2017

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title

B6-responsive disorders: a model of vitamin dependency (English)

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14 August 2017

Peter T Clayton

1

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14 August 2017

1 April 2006

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Journal of Inherited Metabolic Disease

14 August 2017

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14 August 2017

29

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14 August 2017

2-3

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14 August 2017

317-326

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https://scigraph.springernature.com/pub.10.1007/s10545-005-0243-2

14 August 2017

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cites work

Demographics and diagnosis of pyridoxine-dependent seizures

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-005-0243-2

Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-005-0243-2

Hypophosphatasia; a new developmental anomaly

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-005-0243-2

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

21 January 2018

1 reference

12 December 2020

Ocular findings in patients with gyrate atrophy on pyridoxine and low-protein, low-arginine diets

1 reference

12 December 2020

Epidemiology of pyridoxine dependent seizures in the Netherlands

1 reference

12 December 2020

Fits, pyridoxine, and hyperprolinaemia type II.

1 reference

12 December 2020

Degradation of tyrosine aminotransferase (TAT) via the ubiquitin-proteasome pathway

1 reference

12 December 2020

Effect of Vitamin B6 Depletion in Adult Man on the Plasma Concentration and the Urinary Excretion of Free Amino Acids

1 reference

12 December 2020

Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase

1 reference

12 December 2020

Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina

1 reference

12 December 2020

Quantities of B6 vitamers in human milk by high-performance liquid chromatography. Influence of maternal vitamin B6 status

1 reference

12 December 2020

Non-nutritional uses of vitamin B6.

1 reference

12 December 2020

Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina

1 reference

12 December 2020

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

1 reference

12 December 2020

Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy

1 reference

12 December 2020

The pcd gene encoding piperideine-6-carboxylate dehydrogenase involved in biosynthesis of alpha-aminoadipic acid is located in the cephamycin cluster of Streptomyces clavuligerus.

1 reference

12 December 2020

A paradoxical rise of neonatal seizures after treatment with vitamin B6.

1 reference

12 December 2020

The successful treatment of homocystinuria with pyridoxine

1 reference

12 December 2020

Relationship between vitamin B-6 status and elevated pyridoxal kinase levels induced by theophylline therapy in humans

1 reference

12 December 2020

Modulation of steroid receptor-mediated gene expression by vitamin B6.

1 reference

12 December 2020

Seizures induced by intracerebral administration of pyridoxal-5'-phosphate: effect of GABAergic drugs and glutamate receptor antagonists

1 reference

12 December 2020

Pyridoxal phosphate enzymes: mechanistic, structural, and evolutionary considerations

1 reference

12 December 2020

Vitamin B6 in management of gyrate atrophy of choroid and retina

1 reference

12 December 2020

An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1)

1 reference

12 December 2020

Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions

1 reference

12 December 2020

Pyridoxal phosphate-induced liver injury in a patient with homocystinuria

1 reference

12 December 2020

Pyridoxine as therapy in theophylline-induced seizures.

1 reference

12 December 2020

Inhibition of pyridoxal kinase by methylxanthines

1 reference

12 December 2020

Pyridoxal phosphokinases. II. Effects of inhibitors

1 reference

12 December 2020

Homology between a human protein and a protein of the green garden pea.

1 reference

12 December 2020

Vigabatrin inhibits pyridoxine-5'-phosphate oxidase, not pyridoxal kinase in the hippocampus of seizure prone gerbils

1 reference

12 December 2020

Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene

1 reference

12 December 2020

Vitamin B6 (pyridoxine) and its derivatives are efficient singlet oxygen quenchers and potential fungal antioxidants.

1 reference

12 December 2020

Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

1 reference

12 December 2020

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

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

delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia. Hypercatabolism caused by the increased susceptibility to the controlling protease

1 reference

12 December 2020

THE COFACTOR-MEDIATED REGULATION OF APOENZYME LEVELS IN ANIMAL TISSUES. I. THE PYRIDOXINE-INDUCED RISE OF RAT LIVER TYROSINE TRANSAMINASE LEVEL IN VIVO

1 reference

12 December 2020

Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine

1 reference

12 December 2020

Electroencephalographic changes and periodontal status during short-term vitamin B-6 depletion of young, nonpregnant women.

1 reference

12 December 2020

Pyridoxine (vitamin B6) neurotoxicity: enhancement by protein-deficient diet

1 reference

12 December 2020

Hydrolytic Activity toward Pyridoxine-5′-β-d-Glucoside in Rat Intestinal Mucosa Is Not Increased by Vitamin B-6 Deficiency: Effect of Basal Diet Composition and Pyridoxine Intake

1 reference

12 December 2020

Pyridoxal 5'-phosphate binds specifically to soluble CD4 protein, the HIV-1 receptor. Implications for AIDS therapy

1 reference

12 December 2020

Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II

1 reference

12 December 2020

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts

1 reference

12 December 2020

Proconvulsant effects induced by pyridoxine in young rats.

1 reference

12 December 2020

ABNORMAL TRYPTOPHAN METABOLISM IN PATIENTS WITH ADULT CELIAC DISEASE, WITH EVIDENCE FOR DEFICIENCY OF VITAMIN B6

1 reference

12 December 2020

Pyridoxal 5'-phosphate as a novel weapon against autoimmunity and transplant rejection

1 reference

12 December 2020

The effect of B-vitamins on hyperhomocysteinemia in patients on antiepileptic drugs.

1 reference

12 December 2020

Catalytic mechanism of glycogen phosphorylase: pyridoxal(5')diphospho(1)-alpha-D-glucose as a transition-state analogue

1 reference

12 December 2020

Convulsive seizures in infants with pyridoxine-deficient diet

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12 December 2020

Effects of isoniazid on pyridoxine metabolism

1 reference

12 December 2020

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

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12 December 2020

Characteristics of pyridoxine overdose neuropathy syndrome

1 reference

12 December 2020

Low-dose vitamin B-6 effectively lowers fasting plasma homocysteine in healthy elderly persons who are folate and riboflavin replete.

1 reference

12 December 2020

A highly conserved sequence is a novel gene involved in de novo vitamin B6 biosynthesis

1 reference

12 December 2020

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

1 reference

12 December 2020

Evidence of poor vitamin status in coeliac patients on a gluten-free diet for 10 years

1 reference

12 December 2020

10.1007/S10545-005-0243-2

Identifiers

DOI

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14 August 2017

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PubMed ID

16763894