BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

963 related articles for article (PubMed ID: 17395561)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B
    Whyte MP; Zhang F; Mack KE; Wenkert D; Gottesman GS; Ericson KL; Cole JT; Coburn SP
    Bone; 2024 Apr; 181():117033. PubMed ID: 38307176
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 23(3):340-348. PubMed ID: 30655187
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.
    Demirbilek H; Alanay Y; Alikaşifoğlu A; Topçu M; Mornet E; Gönç N; Özön A; Kandemir N
    J Clin Res Pediatr Endocrinol; 2012 Mar; 4(1):34-8. PubMed ID: 22394703
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Physiological role of alkaline phosphatase explored in hypophosphatasia.
    Whyte MP
    Ann N Y Acad Sci; 2010 Mar; 1192():190-200. PubMed ID: 20392236
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
    Mumm S; Jones J; Finnegan P; Henthorn PS; Podgornik MN; Whyte MP
    Mol Genet Metab; 2002 Feb; 75(2):143-53. PubMed ID: 11855933
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Congenital hypophosphatasia].
    Terheggen HG; Wischermann A
    Monatsschr Kinderheilkd; 1984 Jul; 132(7):512-22. PubMed ID: 6147751
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.
    Belachew D; Kazmerski T; Libman I; Goldstein AC; Stevens ST; Deward S; Vockley J; Sperling MA; Balest AL
    JIMD Rep; 2013; 11():17-24. PubMed ID: 23479201
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hypophosphatasia: An overview For 2017.
    Whyte MP
    Bone; 2017 Sep; 102():15-25. PubMed ID: 28238808
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.
    Whyte MP; Wenkert D; McAlister WH; Mughal MZ; Freemont AJ; Whitehouse R; Baildam EM; Coburn SP; Ryan LM; Mumm S
    J Bone Miner Res; 2009 Aug; 24(8):1493-505. PubMed ID: 19335222
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
    Utsch B; Brun-Heath I; Staatz G; Gravou-Apostolatou C; Karle S; Jacobs U; Ludwig M; Zenker M; Dörr HG; Rascher W; Mornet E; Dötsch J
    Exp Clin Endocrinol Diabetes; 2009 Jan; 117(1):28-33. PubMed ID: 18523927
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hypophosphatasia.
    Rockman-Greenberg C
    Pediatr Endocrinol Rev; 2013 Jun; 10 Suppl 2():380-8. PubMed ID: 23858621
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.
    Akiyama T; Kubota T; Ozono K; Michigami T; Kobayashi D; Takeyari S; Sugiyama Y; Noda M; Harada D; Namba N; Suzuki A; Utoyama M; Kitanaka S; Uematsu M; Mitani Y; Matsunami K; Takishima S; Ogawa E; Kobayashi K
    Mol Genet Metab; 2018 Sep; 125(1-2):174-180. PubMed ID: 30049651
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neonatal hypophosphatasia and seizures. A case report.
    Smilari P; Romeo DM; Palazzo P; Meli C; Sorge G
    Minerva Pediatr; 2005 Oct; 57(5):319-23. PubMed ID: 16205618
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy.
    Ishiguro T; Sugiyama Y; Ueda K; Muramatsu Y; Tsuda H; Kotani T; Michigami T; Tachikawa K; Akiyama T; Hayakawa M
    Brain Dev; 2019 Sep; 41(8):721-725. PubMed ID: 31000369
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology.
    Whyte MP; Coburn SP; Ryan LM; Ericson KL; Zhang F
    Bone; 2018 May; 110():96-106. PubMed ID: 29360619
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical Forms and Animal Models of Hypophosphatasia.
    Salles JP
    Subcell Biochem; 2015; 76():3-24. PubMed ID: 26219704
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hypophosphatasia: Vitamin B
    Whyte MP; Zhang F; Wenkert D; Mack KE; Bijanki VN; Ericson KL; Coburn SP
    Bone; 2022 Jan; 154():116204. PubMed ID: 34547524
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
    Taillandier A; Lia-Baldini AS; Mouchard M; Robin B; Muller F; Simon-Bouy B; Serre JL; Bera-Louville A; Bonduelle M; Eckhardt J; Gaillard D; Myhre AG; Körtge-Jung S; Larget-Piet L; Malou E; Sillence D; Temple IK; Viot G; Mornet E
    Hum Mutat; 2001; 18(1):83-4. PubMed ID: 11438998
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.
    Gagnon C; Sims NA; Mumm S; McAuley SA; Jung C; Poulton IJ; Ng KW; Ebeling PR
    J Clin Endocrinol Metab; 2010 Mar; 95(3):1007-12. PubMed ID: 20089612
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 49.