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Journal Abstract Search

225 related items for PubMed ID: 30979366

  • 1. Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report.
    Yu F, Wang J, Xu X.
    BMC Pediatr; 2019 Apr 13; 19(1):109. PubMed ID: 30979366
    [Abstract] [Full Text] [Related]

  • 2. Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.
    Chang KC, Lin PH, Su YN, Peng SS, Lee NC, Chou HC, Chen CY, Hsieh WS, Tsao PN.
    J Bone Miner Metab; 2012 Jan 13; 30(1):109-13. PubMed ID: 21638016
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  • 3. Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
    Uday S, Matsumura T, Saraff V, Saito S, Orimo H, Högler W.
    Bone; 2019 Oct 13; 127():9-16. PubMed ID: 31146036
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
    Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P.
    Am J Med Genet A; 2017 Mar 25; 173(3):601-610. PubMed ID: 28127875
    [Abstract] [Full Text] [Related]

  • 6. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
    Watanabe A, Karasugi T, Sawai H, Naing BT, Ikegawa S, Orimo H, Shimada T.
    J Hum Genet; 2011 Feb 25; 56(2):166-8. PubMed ID: 21179104
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. Utility of genetic testing for prenatal presentations of hypophosphatasia.
    Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E.
    Mol Genet Metab; 2021 Mar 26; 132(3):198-203. PubMed ID: 33549410
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  • 12. 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 26; 40(6):1655-61. PubMed ID: 17395561
    [Abstract] [Full Text] [Related]

  • 13. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.
    Sawai H, Kanazawa N, Tsukahara Y, Koike K, Udagawa H, Koyama K, Mornet E.
    Prenat Diagn; 2003 Sep 26; 23(9):743-6. PubMed ID: 12975786
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  • 16. Hypophosphatasia.
    Mornet E.
    Orphanet J Rare Dis; 2007 Oct 04; 2():40. PubMed ID: 17916236
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  • 17. Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
    Michigami T, Tachikawa K, Yamazaki M, Kawai M, Kubota T, Ozono K.
    Calcif Tissue Int; 2020 Mar 04; 106(3):221-231. PubMed ID: 31707452
    [Abstract] [Full Text] [Related]

  • 18. Clinical and genetic characteristics of hypophosphatasia in Chinese children.
    Liu M, Liu M, Liang X, Wu D, Li W, Su C, Cao B, Chen J, Gong C.
    Orphanet J Rare Dis; 2021 Apr 07; 16(1):159. PubMed ID: 33827627
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  • 19. Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.
    Araci MB, Akgun B, Atik T, Isik E, Ak G, Barutcuoglu B, Ozkinay F.
    Ann Clin Biochem; 2021 Jul 07; 58(4):335-341. PubMed ID: 33601892
    [Abstract] [Full Text] [Related]

  • 20. Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.
    Hough TA, Polewski M, Johnson K, Cheeseman M, Nolan PM, Vizor L, Rastan S, Boyde A, Pritzker K, Hunter AJ, Fisher EM, Terkeltaub R, Brown SD.
    J Bone Miner Res; 2007 Sep 07; 22(9):1397-407. PubMed ID: 17539739
    [Abstract] [Full Text] [Related]

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