469 related articles for article (PubMed ID: 28401263)
1. 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]
2. Clinical Significance of Hypophosphatasemia in Children.
Bayramli R; Cevlik T; Guran T; Atay Z; Bas S; Haklar G; Bereket A; Turan S
Calcif Tissue Int; 2020 Jun; 106(6):608-615. PubMed ID: 32088736
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B
Whyte MP; Zhang F; Mack KE; Wenkert D; Gottesman GS; Ericson KL; Cole JT; Coburn SP
Bone; 2024 Apr; 181():117033. PubMed ID: 38307176
[TBL] [Abstract][Full Text] [Related]
6. Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.
Tornero C; Navarro-Compán V; Buño A; Heath KE; Díaz-Almirón M; Balsa A; Tenorio JA; Quer J; Aguado P
Orphanet J Rare Dis; 2022 Mar; 17(1):98. PubMed ID: 35241128
[TBL] [Abstract][Full Text] [Related]
7. Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
Masi L; Marini F; Franceschelli F; Leoncini G; Cianferotti L; Cioppi F; Giusti F; Marcucci G; Gronchi G; Brandi ML
Osteoporos Int; 2021 Dec; 32(12):2461-2472. PubMed ID: 34097127
[TBL] [Abstract][Full Text] [Related]
8. Predictive modeling of hypophosphatasia based on a case series of adult patients with persistent hypophosphatasemia.
Garcia-Carretero R; Olid-Velilla M; Perez-Torrella D; Torres-Pacho N; Darnaude-Ortiz MT; Bustamate-Zuloeta AD; Tenorio JA
Osteoporos Int; 2021 Sep; 32(9):1815-1824. PubMed ID: 33619648
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase.
Riancho JA
Calcif Tissue Int; 2023 Mar; 112(3):289-296. PubMed ID: 36348061
[TBL] [Abstract][Full Text] [Related]
11. Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
García-Fontana C; Villa-Suárez JM; Andújar-Vera F; González-Salvatierra S; Martínez-Navajas G; Real PJ; Gómez Vida JM; de Haro T; García-Fontana B; Muñoz-Torres M
Sci Rep; 2019 Jul; 9(1):9569. PubMed ID: 31267001
[TBL] [Abstract][Full Text] [Related]
12. Screening for hypophosphatasia: does biochemistry lead the way?
Held CM; Guebelin A; Krebs A; Sass JO; Wurm M; Lausch E; van der Werf-Grohmann N; Schwab KO
J Pediatr Endocrinol Metab; 2022 Feb; 35(2):169-178. PubMed ID: 34551461
[TBL] [Abstract][Full Text] [Related]
13. Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Jandl NM; Schmidt T; Rolvien T; Stürznickel J; Chrysostomou K; von Vopelius E; Volk AE; Schinke T; Kubisch C; Amling M; Barvencik F
Calcif Tissue Int; 2021 Mar; 108(3):288-301. PubMed ID: 33191482
[TBL] [Abstract][Full Text] [Related]
14. Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.
Guarnieri V; Sileri F; Indirli R; Guabello G; Longhi M; Dito G; Verdelli C; Corbetta S
J Endocrinol Invest; 2022 Jan; 45(1):125-137. PubMed ID: 34213743
[TBL] [Abstract][Full Text] [Related]
15. Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark.
Hepp N; Frederiksen AL; Duno M; Præst Holm J; Rye Jørgensen N; Beck Jensen JE
Bone Rep; 2021 Dec; 15():101101. PubMed ID: 34258332
[TBL] [Abstract][Full Text] [Related]
16. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy.
Whyte MP; Landt M; Ryan LM; Mulivor RA; Henthorn PS; Fedde KN; Mahuren JD; Coburn SP
J Clin Invest; 1995 Apr; 95(4):1440-5. PubMed ID: 7706447
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.
Calmarza P; Lapresta C; Martínez García M; Ochoa J; Sienes Bailo P; Acha Pérez J; Beltrán Audera J; González-Roca E
J Bone Miner Metab; 2023 Sep; 41(5):654-665. PubMed ID: 37351650
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
