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Journal Abstract Search

175 related items for PubMed ID: 22300680

  • 41.
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  • 42. Genetic evaluations of Chinese patients with odontohypophosphatasia resulting from heterozygosity for mutations in the tissue-non-specific alkaline phosphatase gene.
    Wan J, Zhang L, Liu T, Wang Y.
    Oncotarget; 2017 Aug 01; 8(31):51569-51577. PubMed ID: 28881669
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  • 43.
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  • 44. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.
    Henthorn PS, Whyte MP.
    Clin Chem; 1992 Dec 01; 38(12):2501-5. PubMed ID: 1360878
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  • 45. Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.
    Güzel Nur B, Çelmeli G, Manguoğlu E, Soyucen E, Bircan İ, Mıhçı E.
    J Clin Res Pediatr Endocrinol; 2016 Sep 01; 8(3):360-4. PubMed ID: 27086862
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  • 48. 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 01; 47(4):111-115. PubMed ID: 37408354
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  • 49. 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 01; 28(8):2343-2348. PubMed ID: 28401263
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  • 50. 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
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  • 51. Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
    Litmanovitz, Reish O, Dolfin T, Arnon S, Regev R, Grinshpan G, Yamazaki M, Ozono K.
    J Inherit Metab Dis; 2002 Feb 16; 25(1):35-40. PubMed ID: 11999978
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  • 52.
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  • 53. 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
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  • 56. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.
    Lefever E, Witters P, Gielen E, Vanclooster A, Meersseman W, Morava E, Cassiman D, Laurent MR.
    J Clin Densitom; 2020 Jun 01; 23(3):340-348. PubMed ID: 30655187
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  • 57.
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  • 58. A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
    Greenberg CR, Taylor CL, Haworth JC, Seargeant LE, Philipps S, Triggs-Raine B, Chodirker BN.
    Genomics; 1993 Jul 01; 17(1):215-7. PubMed ID: 8406453
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