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Journal Abstract Search

153 related items for PubMed ID: 2079838

  • 1. Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia.
    Chodirker BN, Coburn SP, Seargeant LE, Whyte MP, Greenberg CR.
    J Inherit Metab Dis; 1990; 13(6):891-6. PubMed ID: 2079838
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  • 2. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
    Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W.
    Bone; 2007 Jun; 40(6):1655-61. PubMed ID: 17395561
    [Abstract] [Full Text] [Related]

  • 3. 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.
    Whyte MP, Mahuren JD, Fedde KN, Cole FS, McCabe ER, Coburn SP.
    J Clin Invest; 1988 Apr; 81(4):1234-9. PubMed ID: 3350970
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  • 4. Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolism.
    Whyte MP, Zhang F, Mack KE, Wenkert D, Gottesman GS, Ericson KL, Cole JT, Coburn SP.
    Bone; 2024 Apr; 181():117033. PubMed ID: 38307176
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  • 5. Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.
    Whyte MP, Mahuren JD, Vrabel LA, Coburn SP.
    J Clin Invest; 1985 Aug; 76(2):752-6. PubMed ID: 4031070
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  • 6. Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia.
    Iqbal SJ, Brain A, Reynolds TM, Penny M, Holland S.
    Clin Sci (Lond); 1998 Feb; 94(2):203-6. PubMed ID: 9536930
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  • 8. Vitamin B6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia.
    Whyte MP, May JD, McAlister WH, Burgener K, Cortez SR, Kreienkamp R, Castro O, Verzola R, Zavala AS, McPherson CC, Gottesman GS, Ericson KL, Coburn SP, Arbelaez AM.
    Bone; 2021 Sep; 150():116007. PubMed ID: 34000433
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  • 10. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy.
    Whyte MP, Landt M, Ryan LM, Mulivor RA, Henthorn PS, Fedde KN, Mahuren JD, Coburn SP.
    J Clin Invest; 1995 Apr; 95(4):1440-5. PubMed ID: 7706447
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  • 11. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.
    Lefever E, Witters P, Gielen E, Vanclooster A, Meersseman W, Morava E, Cassiman D, Laurent MR.
    J Clin Densitom; 2020 Apr; 23(3):340-348. PubMed ID: 30655187
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  • 12. Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
    Riancho-Zarrabeitia L, García-Unzueta M, Tenorio JA, Gómez-Gerique JA, Ruiz Pérez VL, Heath KE, Lapunzina P, Riancho JA.
    Eur J Intern Med; 2016 Apr; 29():40-5. PubMed ID: 26783040
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  • 14. Mutational and biochemical findings in adults with persistent hypophosphatasemia.
    McKiernan FE, Dong J, Berg RL, Scotty E, Mundt P, Larson L, Rai I.
    Osteoporos Int; 2017 Aug; 28(8):2343-2348. PubMed ID: 28401263
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  • 15. Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia.
    Iqbal SJ, Davies T, Cole R, Whitaker P, Chapman C.
    Clin Chim Acta; 2000 Dec; 302(1-2):49-57. PubMed ID: 11074063
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  • 17. The relationship between plasma albumin, alkaline phosphatase and pyridoxal phosphate concentrations in plasma and red cells: Implications for assessing vitamin B6 status.
    Talwar D, Catchpole A, Wadsworth JM, Toole BJ, McMillan DC.
    Clin Nutr; 2020 Sep; 39(9):2824-2831. PubMed ID: 31883613
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  • 18. Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family.
    Gehring B, Mornet E, Plath H, Hansmann M, Bartmann P, Brenner RE.
    Clin Genet; 1999 Oct; 56(4):313-7. PubMed ID: 10636450
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  • 19. Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report.
    Fukazawa M, Tezuka J, Sasazuki M, Masumoto N, Baba H, Doi T, Tsutsumi Y, Mizuno Y, Mihara F, Nakayama H.
    Brain Dev; 2018 Feb; 40(2):140-144. PubMed ID: 28802630
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  • 20. Vitamin B6 metabolism in chronic alcohol abuse. Pyridoxal phosphate levels in plasma and the effects of acetaldehyde on pyridoxal phosphate synthesis and degradation in human erythrocytes.
    Lumeng L, Li TK.
    J Clin Invest; 1974 Mar; 53(3):693-704. PubMed ID: 4359937
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