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Orodental phenotype and genotype findings in all subtypes of hypophosphatasiaHypophosphatasiaDifferent missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasiaIsolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatasePathophysiology of hypophosphatasia and the potential role of asfotase alfaExtracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemiaAn Evaluative History of Bisphosphonate Drugs: Dual Physiologic Effects of Pyrophosphate as Inspiration for a Novel Pharmaceutical ClassBenign increased intracranial hypertension due to chronic vitamin A overdosage in a 26-month-old child. The increased intracranial pressure subsided promptly with steroid therapy and cessation of vitamin APrenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies.A novel missense mutation in the ALPL gene causes dysfunction of the protein.Enzyme replacement therapy for murine hypophosphatasiaThe pathophysiology and clinical aspects of hypercalcemic disorders.Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone.Serum alkaline phosphatase in hypophosphatasia.Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasiaAlkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancyAlkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasiaDose response of bone-targeted enzyme replacement for murine hypophosphatasia.Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markersHyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screeningAnalysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.INHERITED ENZYME DEFECTS: A REVIEW.Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid.Genes and gene polymorphisms associated with periodontal disease.Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia.Prosthetic rehabilitation of a young patient with Hypophosphatasia - A review and case report.Hypophosphatasia: a genetic study.Enzyme replacement prevents enamel defects in hypophosphatasia miceCurrent concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases.The genetic basis of periodontitis.Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile HypophosphatasiaDistribution of alkaline phosphatase in the serum proteins in hypophosphatasiaFibrinogenesis imperfecta ossiumAutosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide.Developmental change in human intestinal alkaline phosphatase.Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis.Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).Current concepts in hypophosphatasia: case report and literature review.Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.
P2860
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P2860
description
1957 nî lūn-bûn
@nan
1957 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1957 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1957年の論文
@ja
1957年論文
@yue
1957年論文
@zh-hant
1957年論文
@zh-hk
1957年論文
@zh-mo
1957年論文
@zh-tw
1957年论文
@wuu
name
Hypophosphatasia
@ast
Hypophosphatasia
@en
Hypophosphatasia
@nl
type
label
Hypophosphatasia
@ast
Hypophosphatasia
@en
Hypophosphatasia
@nl
prefLabel
Hypophosphatasia
@ast
Hypophosphatasia
@en
Hypophosphatasia
@nl
P3181
P1476
Hypophosphatasia
@en
P2093
P304
P3181
P356
10.1016/0002-9343(57)90124-9
P407
P577
1957-05-01T00:00:00Z