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12. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene. Sawai H; Kanazawa N; Tsukahara Y; Koike K; Udagawa H; Koyama K; Mornet E Prenat Diagn; 2003 Sep; 23(9):743-6. PubMed ID: 12975786 [TBL] [Abstract][Full Text] [Related]
13. Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report. Yu F; Wang J; Xu X BMC Pediatr; 2019 Apr; 19(1):109. PubMed ID: 30979366 [TBL] [Abstract][Full Text] [Related]
14. Hypophosphatasia update: recent advances in diagnosis and treatment. Cole DE Clin Genet; 2008 Mar; 73(3):232-5. PubMed ID: 18190594 [No Abstract] [Full Text] [Related]
15. Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report. Kato M; Hattori T; Shimizu T; Ninagawa K; Izumihara R; Nomoto H; Tanimura K; Atsumi T J Bone Miner Metab; 2020 Nov; 38(6):903-907. PubMed ID: 32772198 [TBL] [Abstract][Full Text] [Related]
16. A clinical and research protocol for characterizing patients with hypophosphatasia. Hu CC; King DL; Thomas HF; Simmer JP Pediatr Dent; 1996; 18(1):17-23. PubMed ID: 8668564 [No Abstract] [Full Text] [Related]
17. 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]
18. Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Reibel A; Manière MC; Clauss F; Droz D; Alembik Y; Mornet E; Bloch-Zupan A Orphanet J Rare Dis; 2009 Feb; 4():6. PubMed ID: 19232125 [TBL] [Abstract][Full Text] [Related]
19. Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia. Watanabe A; Yamamasu S; Shinagawa T; Suzuki Y; Miyake H; Takeshita T; Orimo H; Shimada T J Nippon Med Sch; 2007 Feb; 74(1):65-9. PubMed ID: 17384481 [TBL] [Abstract][Full Text] [Related]
20. [Hypophosphatasia : What is currently available for treatment?]. Schmidt T; Amling M; Barvencik F Internist (Berl); 2016 Dec; 57(12):1145-1154. PubMed ID: 27796472 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]