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.
6. Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease. Macfarlane JD; Poorthuis BJ; van de Kamp JJ; Russell RG; Caswell AM Clin Chem; 1988 Sep; 34(9):1937-41. PubMed ID: 2843309 [TBL] [Abstract][Full Text] [Related]
7. Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia. Weninger M; Stinson RA; Plenk H; Böck P; Pollak A Acta Paediatr Scand Suppl; 1989; 360():154-60. PubMed ID: 2642253 [TBL] [Abstract][Full Text] [Related]
8. Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms. Fujisawa Y; Kitaoka T; Ono H; Nakashima S; Ozono K; Ogata T Front Endocrinol (Lausanne); 2020; 11():590455. PubMed ID: 33391183 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. Caswell AM; Whyte MP; Russell RG J Clin Endocrinol Metab; 1986 Nov; 63(5):1237-41. PubMed ID: 3020080 [TBL] [Abstract][Full Text] [Related]
11. Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia. Kishnani PS; Rockman-Greenberg C; Rauch F; Bhatti MT; Moseley S; Denker AE; Watsky E; Whyte MP Bone; 2019 Apr; 121():149-162. PubMed ID: 30576866 [TBL] [Abstract][Full Text] [Related]
12. Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Whyte MP; Teitelbaum SL; Murphy WA; Bergfeld MA; Avioli LV Medicine (Baltimore); 1979 Sep; 58(5):329-47. PubMed ID: 481194 [TBL] [Abstract][Full Text] [Related]
13. Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial. Kitaoka T; Tajima T; Nagasaki K; Kikuchi T; Yamamoto K; Michigami T; Okada S; Fujiwara I; Kokaji M; Mochizuki H; Ogata T; Tatebayashi K; Watanabe A; Yatsuga S; Kubota T; Ozono K Clin Endocrinol (Oxf); 2017 Jul; 87(1):10-19. PubMed ID: 28374482 [TBL] [Abstract][Full Text] [Related]
14. Alkaline phosphatase deficiency in cultured skin fibroblasts from patients with hypophosphatasia: comparison of the infantile, childhood, and adult forms. Whyte MP; Vrabel LA; Schwartz TD J Clin Endocrinol Metab; 1983 Oct; 57(4):831-7. PubMed ID: 6885967 [TBL] [Abstract][Full Text] [Related]
15. Hypophosphatasia in Taiwan: report of two cases. Chou YY; Ou HY; Wu TJ; Tsai SC; Lin SJ; Yu EH Kaohsiung J Med Sci; 2005 Mar; 21(3):134-7. PubMed ID: 15875439 [TBL] [Abstract][Full Text] [Related]
17. Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Kosnik-Infinger L; Gendron C; Gordon CB; Pan BS; van Aalst JA; Vogel TW Neurosurg Focus; 2015 May; 38(5):E10. PubMed ID: 25929963 [TBL] [Abstract][Full Text] [Related]
18. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. Whyte MP; Landt M; Ryan LM; Mulivor RA; Henthorn PS; Fedde KN; Mahuren JD; Coburn SP J Clin Invest; 1995 Apr; 95(4):1440-5. PubMed ID: 7706447 [TBL] [Abstract][Full Text] [Related]
19. Hypophosphatasia: An overview For 2017. Whyte MP Bone; 2017 Sep; 102():15-25. PubMed ID: 28238808 [TBL] [Abstract][Full Text] [Related]