These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

263 related items for PubMed ID: 31793067

  • 1. 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; 35(4):657-661. PubMed ID: 31793067
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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 26; 28(8):2343-2348. PubMed ID: 28401263
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. Identifying adult hypophosphatasia in the rheumatology unit.
    Feurstein J, Behanova M, Haschka J, Roetzer K, Uyanik G, Hadzimuratovic B, Witsch-Baumgartner M, Schett G, Zwerina J, Kocijan R.
    Orphanet J Rare Dis; 2022 Dec 14; 17(1):435. PubMed ID: 36514157
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. 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 14; 58(4):335-341. PubMed ID: 33601892
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. 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 16; 127():9-16. PubMed ID: 31146036
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. A low serum alkaline phosphatase may signal hypophosphatasia in osteoporosis clinic patients.
    Ng E, Ashkar C, Seeman E, Schneider HG, Nguyen H, Ebeling PR, Sztal-Mazer S.
    Osteoporos Int; 2023 Feb 07; 34(2):327-337. PubMed ID: 36434431
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
    Nagata M, Setoh K, Takahashi M, Higasa K, Kawaguchi T, Kawasaki H, Wada T, Watanabe A, Sawai H, Tabara Y, Yamada T, Matsuda F, Kosugi S.
    J Hum Genet; 2020 Mar 25; 65(3):337-343. PubMed ID: 31857675
    [Abstract] [Full Text] [Related]

  • 17. Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark.
    Hepp N, Frederiksen AL, Duno M, Præst Holm J, Rye Jørgensen N, Beck Jensen JE.
    Bone Rep; 2021 Dec 25; 15():101101. PubMed ID: 34258332
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 14; 56(2):166-8. PubMed ID: 21179104
    [Abstract] [Full Text] [Related]

  • 20. 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 14; 173(3):601-610. PubMed ID: 28127875
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 14.