233 related articles for article (PubMed ID: 35068125)
1. Severe perinatal hypophosphatasia case with a novel mutation.
Yazici H; Canda E; Kalkan Ucar S; Coker M
Arch Argent Pediatr; 2022 Feb; 120(1):e21-e24. PubMed ID: 35068125
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Vitamin B
Whyte MP; May JD; McAlister WH; Burgener K; Cortez SR; Kreienkamp R; Castro O; Verzola R; Zavala AS; McPherson CC; Gottesman GS; Ericson KL; Coburn SP; Arbelaez AM
Bone; 2021 Sep; 150():116007. PubMed ID: 34000433
[TBL] [Abstract][Full Text] [Related]
4. Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia.
Ogawa E; Shimura K; Yoshihashi H; Miyama S
Pediatr Neurol; 2022 May; 130():4-6. PubMed ID: 35303588
[TBL] [Abstract][Full Text] [Related]
5. Mutational and biochemical findings in adults with persistent hypophosphatasemia.
McKiernan FE; Dong J; Berg RL; Scotty E; Mundt P; Larson L; Rai I
Osteoporos Int; 2017 Aug; 28(8):2343-2348. PubMed ID: 28401263
[TBL] [Abstract][Full Text] [Related]
6. Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy.
Ishiguro T; Sugiyama Y; Ueda K; Muramatsu Y; Tsuda H; Kotani T; Michigami T; Tachikawa K; Akiyama T; Hayakawa M
Brain Dev; 2019 Sep; 41(8):721-725. PubMed ID: 31000369
[TBL] [Abstract][Full Text] [Related]
7. Hypophosphatasia: From Diagnosis to Treatment.
Simon S; Resch H; Klaushofer K; Roschger P; Zwerina J; Kocijan R
Curr Rheumatol Rep; 2018 Sep; 20(11):69. PubMed ID: 30203264
[TBL] [Abstract][Full Text] [Related]
8. Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.
Kishnani PS; Del Angel G; Zhou S; Rush ET
Mol Genet Metab; 2021 May; 133(1):113-121. PubMed ID: 33814268
[TBL] [Abstract][Full Text] [Related]
9. Hypophosphatasia: Canadian update on diagnosis and management.
Khan AA; Josse R; Kannu P; Villeneuve J; Paul T; Van Uum S; Greenberg CR
Osteoporos Int; 2019 Sep; 30(9):1713-1722. PubMed ID: 30915507
[TBL] [Abstract][Full Text] [Related]
10. Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M; Girschick H; Schweitzer T; Benoit C; Holl-Wieden A; Seefried L; Jakob F; Hofmann C
Orphanet J Rare Dis; 2020 Aug; 15(1):212. PubMed ID: 32811521
[TBL] [Abstract][Full Text] [Related]
11. Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.
Akiyama T; Kubota T; Ozono K; Michigami T; Kobayashi D; Takeyari S; Sugiyama Y; Noda M; Harada D; Namba N; Suzuki A; Utoyama M; Kitanaka S; Uematsu M; Mitani Y; Matsunami K; Takishima S; Ogawa E; Kobayashi K
Mol Genet Metab; 2018 Sep; 125(1-2):174-180. PubMed ID: 30049651
[TBL] [Abstract][Full Text] [Related]
12. Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
Uday S; Matsumura T; Saraff V; Saito S; Orimo H; Högler W
Bone; 2019 Oct; 127():9-16. PubMed ID: 31146036
[TBL] [Abstract][Full Text] [Related]
13. Hypophosphatasia.
Linglart A; Biosse-Duplan M
Curr Osteoporos Rep; 2016 Jun; 14(3):95-105. PubMed ID: 27084188
[TBL] [Abstract][Full Text] [Related]
14. A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the
Hacıhamdioğlu B; Özgürhan G; Pereira C; Tepeli E; Acar G; Cömert S
J Clin Res Pediatr Endocrinol; 2019 Sep; 11(3):306-310. PubMed ID: 30468149
[TBL] [Abstract][Full Text] [Related]
15. Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
Mao X; Liu S; Lin Y; Chen Z; Shao Y; Yu Q; Liu H; Lu Z; Sheng H; Lu X; Huang Y; Liu L; Zeng C
BMC Pediatr; 2019 Nov; 19(1):456. PubMed ID: 31760938
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.
Shajani-Yi Z; Ayala-Lopez N; Black M; Dahir KM
Bone; 2022 Oct; 163():116504. PubMed ID: 35878747
[TBL] [Abstract][Full Text] [Related]
18. Hypophosphatasia: An overview For 2017.
Whyte MP
Bone; 2017 Sep; 102():15-25. PubMed ID: 28238808
[TBL] [Abstract][Full Text] [Related]
19. Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature.
Rougier H; Desrumaux A; Bouchon N; Wroblewski I; Pin I; Nugues F; Mornet E; Baujat G
Arch Pediatr; 2018 Oct; 25(7):442-447. PubMed ID: 30249491
[TBL] [Abstract][Full Text] [Related]
20. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.
Lefever E; Witters P; Gielen E; Vanclooster A; Meersseman W; Morava E; Cassiman D; Laurent MR
J Clin Densitom; 2020; 23(3):340-348. PubMed ID: 30655187
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]