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192 related items for PubMed ID: 33827627

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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 26; 127():9-16. PubMed ID: 31146036
    [Abstract] [Full Text] [Related]

  • 6. [Clinical follow-up and genetic analysis of six cases with hypophosphatasia].
    Liu M, Zhao Y, Liang XJ, Cao BY, Su C, Chen JJ, Gong CX.
    Zhonghua Er Ke Za Zhi; 2021 Mar 02; 59(3):218-222. PubMed ID: 33657697
    [Abstract] [Full Text] [Related]

  • 7. Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.
    Alonso N, Larraz-Prieto B, Berg K, Lambert Z, Redmond P, Harris SE, Deary IJ, Pugh C, Prendergast J, Ralston SH.
    J Bone Miner Res; 2020 Apr 02; 35(4):657-661. PubMed ID: 31793067
    [Abstract] [Full Text] [Related]

  • 8. 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 02; 173(3):601-610. PubMed ID: 28127875
    [Abstract] [Full Text] [Related]

  • 9. Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.
    Li X, Ren N, Wang Z, Wang Y, Hu Y, Hu W, Gu J, Hong W, Zhang Z, Wang C.
    Genes (Basel); 2023 Apr 16; 14(4):. PubMed ID: 37107680
    [Abstract] [Full Text] [Related]

  • 10. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
    Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S.
    Bone; 2015 Jun 16; 75():229-39. PubMed ID: 25731960
    [Abstract] [Full Text] [Related]

  • 11. Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
    García-Fontana C, Villa-Suárez JM, Andújar-Vera F, González-Salvatierra S, Martínez-Navajas G, Real PJ, Gómez Vida JM, de Haro T, García-Fontana B, Muñoz-Torres M.
    Sci Rep; 2019 Jul 02; 9(1):9569. PubMed ID: 31267001
    [Abstract] [Full Text] [Related]

  • 12. Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
    Vogt M, Girschick H, Schweitzer T, Benoit C, Holl-Wieden A, Seefried L, Jakob F, Hofmann C.
    Orphanet J Rare Dis; 2020 Aug 18; 15(1):212. PubMed ID: 32811521
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 25; 56(2):390-7. PubMed ID: 23791648
    [Abstract] [Full Text] [Related]

  • 15. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry.
    Högler W, Langman C, Gomes da Silva H, Fang S, Linglart A, Ozono K, Petryk A, Rockman-Greenberg C, Seefried L, Kishnani PS.
    BMC Musculoskelet Disord; 2019 Feb 14; 20(1):80. PubMed ID: 30764793
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Clinical and genetic aspects of hypophosphatasia in Japanese patients.
    Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S.
    Arch Dis Child; 2014 Mar 28; 99(3):211-5. PubMed ID: 24276437
    [Abstract] [Full Text] [Related]

  • 18. 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 28; 132(3):198-203. PubMed ID: 33549410
    [Abstract] [Full Text] [Related]

  • 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 28; 58(4):335-341. PubMed ID: 33601892
    [Abstract] [Full Text] [Related]

  • 20. Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.
    Dahir KM, Tilden DR, Warner JL, Bastarache L, Smith DK, Gifford A, Ramirez AH, Simmons JS, Black MM, Newman JH, Denny JC.
    J Clin Endocrinol Metab; 2018 Jun 01; 103(6):2234-2243. PubMed ID: 29659871
    [Abstract] [Full Text] [Related]

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