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145 related items for PubMed ID: 11324927
1. Adult hypophosphatasia. Current aspects. Wendling D, Jeannin-Louys L, Kremer P, Fellmann F, Toussirot E, Mornet E. Joint Bone Spine; 2001 Mar; 68(2):120-4. PubMed ID: 11324927 [Abstract] [Full Text] [Related]
2. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP. Proc Natl Acad Sci U S A; 1992 Oct 15; 89(20):9924-8. PubMed ID: 1409720 [Abstract] [Full Text] [Related]
3. 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 15; 22(9):1397-407. PubMed ID: 17539739 [Abstract] [Full Text] [Related]
9. Physiological role of alkaline phosphatase explored in hypophosphatasia. Whyte MP. Ann N Y Acad Sci; 2010 Mar 15; 1192():190-200. PubMed ID: 20392236 [Abstract] [Full Text] [Related]
11. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report. Fukushima K, Kawai-Kowase K, Yonemoto Y, Fujiwara M, Sato H, Sato M, Kubota T, Ozono K, Tamura J. J Med Case Rep; 2019 Apr 24; 13(1):101. PubMed ID: 31014398 [Abstract] [Full Text] [Related]
16. Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges. Whyte MP. J Bone Miner Res; 2017 Apr 24; 32(4):667-675. PubMed ID: 28084648 [Abstract] [Full Text] [Related]
17. Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Stoll C, Fischbach M, Terzic J, Alembik Y, Vuillemin MO, Mornet E. Genet Couns; 2002 Apr 24; 13(3):289-95. PubMed ID: 12416636 [Abstract] [Full Text] [Related]
18. Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form. Iqbal SJ, Plaha DS, Linforth GH, Dalgleish R. Clin Sci (Lond); 1999 Jul 24; 97(1):73-8. PubMed ID: 10369796 [Abstract] [Full Text] [Related]