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Journal Abstract Search

259 related items for PubMed ID: 27312557

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  • 3. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
    Spentchian M, Merrien Y, Herasse M, Dobbie Z, Gläser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E.
    Hum Mutat; 2003 Jul; 22(1):105-6. PubMed ID: 12815606
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  • 7. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
    Glotov OS, Savostyanov KV, Nagornova TS, Chernov AN, Fedyakov MA, Raspopova AN, Krasnoukhov KN, Danilov LG, Moiseeva NV, Kalinin RS, Tsai VV, Eismont YA, Voinova VY, Vitebskaya AV, Gurkina EY, Kuzenkova LM, Sosnina IB, Pushkov AA, Zhanin IS, Zakharova EY.
    Int J Mol Sci; 2022 Oct 26; 23(21):. PubMed ID: 36361766
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  • 8. Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
    Mao X, Liu S, Lin Y, Chen Z, Shao Y, Yu Q, Liu H, Lu Z, Sheng H, Lu X, Huang Y, Liu L, Zeng C.
    BMC Pediatr; 2019 Nov 25; 19(1):456. PubMed ID: 31760938
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  • 9. Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.
    Kim I, Noh ES, Kim MS, Jang JH, Jeon TY, Choi HW, Cho SY.
    Medicine (Baltimore); 2023 Feb 10; 102(6):e32800. PubMed ID: 36820543
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  • 10. 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 10; 40(6):1655-61. PubMed ID: 17395561
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  • 11. Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment.
    Mohn A, De Leonibus C, de Giorgis T, Mornet E, Chiarelli F.
    Acta Paediatr; 2011 Jul 10; 100(7):e43-6. PubMed ID: 21342251
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  • 12. Hypophosphatasia.
    Mornet E.
    Orphanet J Rare Dis; 2007 Oct 04; 2():40. PubMed ID: 17916236
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  • 17. Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation.
    Esmel-Vilomara R, Hernández S, Campos-Martorell A, González-Roca E, Yeste D, Castillo F.
    J Clin Res Pediatr Endocrinol; 2020 Mar 19; 12(1):104-108. PubMed ID: 30929401
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  • 18. Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.
    Taillandier A, Sallinen SL, Brun-Heath I, De Mazancourt P, Serre JL, Mornet E.
    J Clin Endocrinol Metab; 2005 Apr 19; 90(4):2436-9. PubMed ID: 15671102
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  • 19. 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 19; 117(1):28-33. PubMed ID: 18523927
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  • 20. Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
    Stoll C, Fischbach M, Terzic J, Alembik Y, Vuillemin MO, Mornet E.
    Genet Couns; 2002 Jan 19; 13(3):289-95. PubMed ID: 12416636
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