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4. Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. Whyte MP; Vrabel LA; Schwartz TD Trans Assoc Am Physicians; 1982; 95():253-63. PubMed ID: 7182980 [No Abstract] [Full Text] [Related]
5. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. Spentchian M; Merrien Y; Herasse M; Dobbie Z; Gläser D; Holder SE; Ivarsson SA; Kostiner D; Mansour S; Norman A; Roth J; Stipoljev F; Taillemite JL; van der Smagt JJ; Serre JL; Simon-Bouy B; Taillandier A; Mornet E Hum Mutat; 2003 Jul; 22(1):105-6. PubMed ID: 12815606 [TBL] [Abstract][Full Text] [Related]
6. Carrier diagnosis by RFLP analysis in a family affected with infantile hypophosphatasia: case report. Akane A; Shiono H; Matsubara K; Nakamura H; Hasegawa M; Kagawa M; Kobayashi A; Mori C Jinrui Idengaku Zasshi; 1991 Dec; 36(4):335-9. PubMed ID: 1687418 [No Abstract] [Full Text] [Related]
7. Reliable detection of cystic fibrosis in skin-derived fibroblast cultures. Hösli P; Vogt E Hum Genet; 1978 Mar; 41(2):169-73. PubMed ID: 565336 [TBL] [Abstract][Full Text] [Related]
13. Positive maternal serum triple test screening in severe early onset hypophosphatasia. Witters I; Moerman P; Mornet E; Fryns JP Prenat Diagn; 2004 Jul; 24(7):494-7. PubMed ID: 15300736 [TBL] [Abstract][Full Text] [Related]
14. Enzyme defects in the sphingolipidoses and their application to diagnosis. Brady RO Ann Clin Lab Sci (1971); 1972; 2(4):285-94. PubMed ID: 4342099 [No Abstract] [Full Text] [Related]
15. 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]
16. Intestinal alkaline phosphatase activity in familial hypophosphatasia. Danovitch SH; Baer PN; Laster L N Engl J Med; 1968 Jun; 278(23):1253-60. PubMed ID: 4296721 [No Abstract] [Full Text] [Related]
18. Evidence against a role for alkaline phosphatase in the dephosphorylation of plasma membrane proteins: hypophosphatasia fibroblast study. Fedde KN; Michel MP; Whyte MP J Cell Biochem; 1993 Sep; 53(1):43-50. PubMed ID: 8227182 [TBL] [Abstract][Full Text] [Related]