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Journal Abstract Search

145 related items for PubMed ID: 38310522

  • 1. A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene.
    Oto Y, Suzuki D, Morita T, Inoue T, Nitta A, Murakami N, Abe Y, Hamada Y, Akiyama T, Matsubara T.
    J Pediatr Endocrinol Metab; 2024 Mar 25; 37(3):276-279. PubMed ID: 38310522
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 25; 28(8):2343-2348. PubMed ID: 28401263
    [Abstract] [Full Text] [Related]

  • 4. Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia.
    Xu L, Pang Q, Jiang Y, Wang O, Li M, Xing X, Xia W.
    Biosci Rep; 2018 Aug 31; 38(4):. PubMed ID: 29724887
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Pediatric hypophosphatasia: avoid diagnosis missteps!
    Whyte MP, McAlister WH, Mack KE, Mumm S, Madson KL.
    J Bone Miner Res; 2024 Jul 23; 39(6):655-660. PubMed ID: 38905292
    [Abstract] [Full Text] [Related]

  • 7. Odontohypophosphatasia caused by a novel combination of two heterozygous variants: a case report.
    Jiang J, Li H, Kong H, Zeng X, Gou L, Xu J.
    J Clin Pediatr Dent; 2023 Jul 23; 47(4):111-115. PubMed ID: 37408354
    [Abstract] [Full Text] [Related]

  • 8. Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
    Jandl NM, Schmidt T, Rolvien T, Stürznickel J, Chrysostomou K, von Vopelius E, Volk AE, Schinke T, Kubisch C, Amling M, Barvencik F.
    Calcif Tissue Int; 2021 Mar 23; 108(3):288-301. PubMed ID: 33191482
    [Abstract] [Full Text] [Related]

  • 9. Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.
    Kishnani PS, Del Angel G, Zhou S, Rush ET.
    Mol Genet Metab; 2021 May 23; 133(1):113-121. PubMed ID: 33814268
    [Abstract] [Full Text] [Related]

  • 10. ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia.
    Marini F, Masi L, Giusti F, Cianferotti L, Cioppi F, Marcucci G, Ciuffi S, Biver E, Toro G, Iolascon G, Iantomasi T, Brandi ML.
    J Clin Endocrinol Metab; 2022 Apr 19; 107(5):e2087-e2094. PubMed ID: 34935951
    [Abstract] [Full Text] [Related]

  • 11. Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
    Matsuda N, Takasawa K, Ohata Y, Takishima S, Kubota T, Ishihara Y, Fujiwara M, Ogawa E, Morio T, Kashimada K, Ozono K.
    Endocr J; 2020 Dec 28; 67(12):1227-1232. PubMed ID: 32779619
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
    Martins L, Rodrigues TL, Ribeiro MM, Saito MT, Giorgetti AP, Casati MZ, Sallum EA, Foster BL, Somerman MJ, Nociti FH.
    Bone; 2013 Oct 07; 56(2):390-7. PubMed ID: 23791648
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 56(2):166-8. PubMed ID: 21179104
    [Abstract] [Full Text] [Related]

  • 15. Screening for hypophosphatasia: does biochemistry lead the way?
    Held CM, Guebelin A, Krebs A, Sass JO, Wurm M, Lausch E, van der Werf-Grohmann N, Schwab KO.
    J Pediatr Endocrinol Metab; 2022 Feb 23; 35(2):169-178. PubMed ID: 34551461
    [Abstract] [Full Text] [Related]

  • 16. Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
    Okawa R, Kokomoto K, Kitaoka T, Kubota T, Watanabe A, Taketani T, Michigami T, Ozono K, Nakano K.
    PLoS One; 2019 Feb 23; 14(10):e0222931. PubMed ID: 31600233
    [Abstract] [Full Text] [Related]

  • 17. Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.
    Seefried L, Petryk A, Del Angel G, Reder F, Bauer P.
    Mol Biol Rep; 2024 Sep 14; 51(1):984. PubMed ID: 39276275
    [Abstract] [Full Text] [Related]

  • 18. Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
    Masi L, Marini F, Franceschelli F, Leoncini G, Cianferotti L, Cioppi F, Giusti F, Marcucci G, Gronchi G, Brandi ML.
    Osteoporos Int; 2021 Dec 14; 32(12):2461-2472. PubMed ID: 34097127
    [Abstract] [Full Text] [Related]

  • 19. New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
    Kishnani PS, Seefried L, Dahir KM, Martos-Moreno GÁ, Linglart A, Petryk A, Mowrey WR, Fang S, Ozono K, Högler W, Rockman-Greenberg C.
    Am J Med Genet A; 2024 Nov 14; 194(11):e63781. PubMed ID: 38884565
    [Abstract] [Full Text] [Related]

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