348 related articles for article (PubMed ID: 31014398)
21. [Childhood hypophosphatasia: a case report due to a novel mutation].
Draguet C; Gillerot Y; Mornet E
Arch Pediatr; 2004 May; 11(5):440-3. PubMed ID: 15135428
[TBL] [Abstract][Full Text] [Related]
22. 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; 13(3):289-95. PubMed ID: 12416636
[TBL] [Abstract][Full Text] [Related]
23. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.
Mochizuki H; Saito M; Michigami T; Ohashi H; Koda N; Yamaguchi S; Ozono K
Eur J Pediatr; 2000 May; 159(5):375-9. PubMed ID: 10834525
[TBL] [Abstract][Full Text] [Related]
24. Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia.
Maman E; Briot K; Roux C
Joint Bone Spine; 2016 May; 83(3):346-8. PubMed ID: 26992955
[TBL] [Abstract][Full Text] [Related]
25. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Tenorio J; Álvarez I; Riancho-Zarrabeitia L; Martos-Moreno GÁ; Mandrile G; de la Flor Crespo M; Sukchev M; Sherif M; Kramer I; Darnaude-Ortiz MT; Arias P; Gordo G; Dapía I; Martinez-Villanueva J; Gómez R; Iturzaeta JM; Otaify G; García-Unzueta M; Rubinacci A; Riancho JA; Aglan M; Temtamy S; Hamid MA; Argente J; Ruiz-Pérez VL; Heath KE; Lapunzina P
Am J Med Genet A; 2017 Mar; 173(3):601-610. PubMed ID: 28127875
[TBL] [Abstract][Full Text] [Related]
26. Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
Okawa R; Kokomoto K; Kitaoka T; Kubota T; Watanabe A; Taketani T; Michigami T; Ozono K; Nakano K
PLoS One; 2019; 14(10):e0222931. PubMed ID: 31600233
[TBL] [Abstract][Full Text] [Related]
27. Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.
Araci MB; Akgun B; Atik T; Isik E; Ak G; Barutcuoglu B; Ozkinay F
Ann Clin Biochem; 2021 Jul; 58(4):335-341. PubMed ID: 33601892
[TBL] [Abstract][Full Text] [Related]
28. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP; Zhang F; Wenkert D; McAlister WH; Mack KE; Benigno MC; Coburn SP; Wagy S; Griffin DM; Ericson KL; Mumm S
Bone; 2015 Jun; 75():229-39. PubMed ID: 25731960
[TBL] [Abstract][Full Text] [Related]
29. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Hum Mutat; 2000; 15(4):309-15. PubMed ID: 10737975
[TBL] [Abstract][Full Text] [Related]
30. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
Taillandier A; Lia-Baldini AS; Mouchard M; Robin B; Muller F; Simon-Bouy B; Serre JL; Bera-Louville A; Bonduelle M; Eckhardt J; Gaillard D; Myhre AG; Körtge-Jung S; Larget-Piet L; Malou E; Sillence D; Temple IK; Viot G; Mornet E
Hum Mutat; 2001; 18(1):83-4. PubMed ID: 11438998
[TBL] [Abstract][Full Text] [Related]
31. 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; 89(20):9924-8. PubMed ID: 1409720
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Clinical and genetic characteristics of hypophosphatasia in Chinese children.
Liu M; Liu M; Liang X; Wu D; Li W; Su C; Cao B; Chen J; Gong C
Orphanet J Rare Dis; 2021 Apr; 16(1):159. PubMed ID: 33827627
[TBL] [Abstract][Full Text] [Related]
34. Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.
Alonso N; Larraz-Prieto B; Berg K; Lambert Z; Redmond P; Harris SE; Deary IJ; Pugh C; Prendergast J; Ralston SH
J Bone Miner Res; 2020 Apr; 35(4):657-661. PubMed ID: 31793067
[TBL] [Abstract][Full Text] [Related]
35. Hypophosphatasia.
Mornet E
Orphanet J Rare Dis; 2007 Oct; 2():40. PubMed ID: 17916236
[TBL] [Abstract][Full Text] [Related]
36. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
Mumm S; Jones J; Finnegan P; Henthorn PS; Podgornik MN; Whyte MP
Mol Genet Metab; 2002 Feb; 75(2):143-53. PubMed ID: 11855933
[TBL] [Abstract][Full Text] [Related]
37. Bone mineral density and fracture risk in adult patients with hypophosphatasia.
Genest F; Claußen L; Rak D; Seefried L
Osteoporos Int; 2021 Feb; 32(2):377-385. PubMed ID: 32879991
[TBL] [Abstract][Full Text] [Related]
38. Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels.
Koyama H; Yasuda S; Kakoi S; Ohata Y; Shimizu Y; Hasegawa C; Hayakawa A; Akiyama T; Yagi T; Aotani D; Imaeda K; Ozono K; Kataoka H; Tanaka T
Intern Med; 2020 Mar; 59(6):811-815. PubMed ID: 31787692
[TBL] [Abstract][Full Text] [Related]
39. Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
Riancho-Zarrabeitia L; García-Unzueta M; Tenorio JA; Gómez-Gerique JA; Ruiz Pérez VL; Heath KE; Lapunzina P; Riancho JA
Eur J Intern Med; 2016 Apr; 29():40-5. PubMed ID: 26783040
[TBL] [Abstract][Full Text] [Related]
40. Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
Nagata M; Setoh K; Takahashi M; Higasa K; Kawaguchi T; Kawasaki H; Wada T; Watanabe A; Sawai H; Tabara Y; Yamada T; Matsuda F; Kosugi S
J Hum Genet; 2020 Mar; 65(3):337-343. PubMed ID: 31857675
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
