Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.
about
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasiaAlkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast studyInflammation causes tissue-specific depletion of vitamin B6.Asfotase alfa therapy for children with hypophosphatasia.Enzyme replacement therapy for murine hypophosphatasiaAlkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasiaImprovement of the skeletal and dental hypophosphatasia phenotype in Alpl-/- mice by administration of soluble (non-targeted) chimeric alkaline phosphatase.Genome-wide significant predictors of metabolites in the one-carbon metabolism pathwayHyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screeningProlonged survival and phenotypic correction of Akp2(-/-) hypophosphatasia mice by lentiviral gene therapy.Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.Common Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5'-Phosphate Concentration in Healthy AdultsPerinatal 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 phosphataseAblation of TNAP function compromises myelination and synaptogenesis in the mouse brainAlkaline Phosphatase and Hypophosphatasia.Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis.Current concepts in hypophosphatasia: case report and literature review.Tissue-nonspecific Alkaline Phosphatase Regulates Purinergic Transmission in the Central Nervous System During Development and Disease.Direct and Functional Biomarkers of Vitamin B6 Status.Hypophosphatasia: an overview of the disease and its treatment.Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues.Interpretation and clinical significance of alkaline phosphatase isoenzyme patterns.Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblastsPharmacokinetics of vitamin B6 supplements in humans.Recurrent Metatarsal Fractures in Postmenopausal Woman With Low Serum Alkaline Phosphatase: A Rare Diagnosis Not to Miss.Alkaline Phosphatase, an Unconventional Immune Protein.Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia.Hypophosphatasia - pathophysiology and treatment.YZGD from Paenibacillus thiaminolyticus, a pyridoxal phosphatase of the HAD (haloacid dehalogenase) superfamily and a versatile member of the Nudix (nucleoside diphosphate x) hydrolase superfamily.Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia.First identification of a gene defect for hypophosphatasia: evidence that alkaline phosphatase acts in skeletal mineralization.Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges.The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestationsHypophosphatasieVitamin B₆ and Its Role in Cell Metabolism and Physiology
P2860
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P2860
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.
description
1985 nî lūn-bûn
@nan
1985 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1985 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1985年の論文
@ja
1985年論文
@yue
1985年論文
@zh-hant
1985年論文
@zh-hk
1985年論文
@zh-mo
1985年論文
@zh-tw
1985年论文
@wuu
name
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@ast
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@en
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@nl
type
label
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@ast
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@en
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@nl
prefLabel
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@ast
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@en
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@nl
P2093
P2860
P921
P356
P1476
Markedly increased circulating ...... acts in vitamin B6 metabolism.
@en
P2093
J D Mahuren
L A Vrabel
S P Coburn
P2860
P304
P356
10.1172/JCI112031
P407
P577
1985-08-01T00:00:00Z