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Page 1
Adult hypophosphatasia.
Briot K, Roux C. Briot K, et al. Arch Pediatr. 2017 May;24(5S2):5S71-5S73. doi: 10.1016/S0929-693X(18)30018-6. Arch Pediatr. 2017. PMID: 29405936 Review.
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, Cormier C, Cortet B, Porquet-Bordes V, Coury F, Geneviève D, Chiesa J, Colin T, Fletcher E, Guichet A, Javier RM, Laroche M, Laurent M, Lausch E, LeHeup B, Lukas C, Schwabe G, van der Burgt I, Muti C, Simon-Bouy B, Mornet E. Taillandier A, et al. J Bone Miner Metab. 2018 Nov;36(6):723-733. doi: 10.1007/s00774-017-0888-6. Epub 2017 Dec 13. J Bone Miner Metab. 2018. PMID: 29236161
Mutations were distinguished according to their statistical likelihood to show a DNE. One-half of the patients carried mutations predicted with no DNE and were slightly less severely affected by the age of onset, serum AP activity and history of fractures. ...
Mutations were distinguished according to their statistical likelihood to show a DNE. One-half of the patients carried mutations predicte …
ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.
Camacho PM, Mazhari AM, Wilczynski C, Kadanoff R, Mumm S, Whyte MP. Camacho PM, et al. Endocr Pract. 2016 Aug;22(8):941-50. doi: 10.4158/EP15890.OR. Epub 2016 Apr 4. Endocr Pract. 2016. PMID: 27042741 Review.
Femoral neck BMD increased significantly during the first cycle, declined significantly afterwards, and was regained during a second course of teriparatide. CONCLUSION: Teriparatide shows some benefit for adult HPP. ...
Femoral neck BMD increased significantly during the first cycle, declined significantly afterwards, and was regained during a second cour …
Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia.
Xu L, Pang Q, Jiang Y, Wang O, Li M, Xing X, Xia W. Xu L, et al. Biosci Rep. 2018 Aug 29;38(4):BSR20171377. doi: 10.1042/BSR20171377. Print 2018 Aug 31. Biosci Rep. 2018. PMID: 29724887 Free PMC article.
The laboratory and radiological investigations were conducted simultaneously in these HPP ten patients. A 3D model of the TNSALP was used to predict the dominant negative effect of identified missense mutations. ...
The laboratory and radiological investigations were conducted simultaneously in these HPP ten patients. A 3D model of the TNSALP was used to …
A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study.
Martins L, de Almeida AB, Dos Santos EJL, Foster BL, Machado RA, Kantovitz KR, Coletta RD, Nociti FH Jr. Martins L, et al. Bone. 2019 Aug;125:128-139. doi: 10.1016/j.bone.2019.05.005. Epub 2019 May 8. Bone. 2019. PMID: 31077853
Pedigree and biochemical analysis indicated that severity of symptoms was correlated with levels of residual ALP activity, and co-segregated with the p.Gly473Ser missense mutation. Bioinformatic analysis to predict the structural and functional impact of each of the point …
Pedigree and biochemical analysis indicated that severity of symptoms was correlated with levels of residual ALP activity, and co-segregated …
A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.
Martins L, Dos Santos EL, de Almeida AB, Machado RA, Lyrio AM, Foster BL, Kantovitz KR, Coletta RD, Nociti FH Jr. Martins L, et al. Osteoporos Int. 2020 Nov;31(11):2251-2257. doi: 10.1007/s00198-020-05490-1. Epub 2020 Jun 23. Osteoporos Int. 2020. PMID: 32572521 Free PMC article.
ALPL mutational analysis was performed by the Sanger sequencing method, and the functional impact prediction of the identified mutations was assessed by bioinformatic methods. RESULTS: We identified a novel heterozygous nonsense mutation in the ALPL gene (NM_000478.6:c.768 …
ALPL mutational analysis was performed by the Sanger sequencing method, and the functional impact prediction of the identified mutati …
Adult hypophosphatasia.
Coto H, Douglas JE. Coto H, et al. South Med J. 1983 Dec;76(12):1570-2. doi: 10.1097/00007611-198312000-00030. South Med J. 1983. PMID: 6648620
We have described a case of hypophosphatasia with a mild progressive course. This condition and its familial propensity may be more prevalent than recognized. ...
We have described a case of hypophosphatasia with a mild progressive course. This condition and its familial propensity may be more p …
Hypophosphatasia in an adult: a case report.
Nangaku M, Sato N, Sugano K, Takaku F. Nangaku M, et al. Jpn J Med. 1991 Jan-Feb;30(1):47-52. doi: 10.2169/internalmedicine1962.30.47. Jpn J Med. 1991. PMID: 1865578 Free article. Review.