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4. 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; 28(8):2343-2348. PubMed ID: 28401263 [TBL] [Abstract][Full Text] [Related]
5. Hypophosphatasia: An overview For 2017. Whyte MP Bone; 2017 Sep; 102():15-25. PubMed ID: 28238808 [TBL] [Abstract][Full Text] [Related]
6. Physiological role of alkaline phosphatase explored in hypophosphatasia. Whyte MP Ann N Y Acad Sci; 2010 Mar; 1192():190-200. PubMed ID: 20392236 [TBL] [Abstract][Full Text] [Related]
7. [Tissue-nonspecific alkaline phosphatase and hypophosphatasia]. Oda K; Kinjoh NN; Sohda M; Komaru K; Amizuka N Clin Calcium; 2014 Feb; 24(2):233-9. PubMed ID: 24473356 [TBL] [Abstract][Full Text] [Related]
8. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Baumgartner-Sigl S; Haberlandt E; Mumm S; Scholl-Bürgi S; Sergi C; Ryan L; Ericson KL; Whyte MP; Högler W Bone; 2007 Jun; 40(6):1655-61. PubMed ID: 17395561 [TBL] [Abstract][Full Text] [Related]
9. Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. Whyte MP; Mahuren JD; Fedde KN; Cole FS; McCabe ER; Coburn SP J Clin Invest; 1988 Apr; 81(4):1234-9. PubMed ID: 3350970 [TBL] [Abstract][Full Text] [Related]
10. Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts. Fedde KN; Cole DE; Whyte MP Am J Hum Genet; 1990 Nov; 47(5):776-83. PubMed ID: 2171330 [TBL] [Abstract][Full Text] [Related]
11. Alkaline phosphatase is an ectoenzyme that acts on micromolar concentrations of natural substrates at physiologic pH in human osteosarcoma (SAOS-2) cells. Fedde KN; Lane CC; Whyte MP Arch Biochem Biophys; 1988 Aug; 264(2):400-9. PubMed ID: 3165254 [TBL] [Abstract][Full Text] [Related]