BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

391 related articles for article (PubMed ID: 30468149)

  • 1. 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]  

  • 2. Hypophosphatasia: A Unique Disorder of Bone Mineralization.
    Villa-Suárez JM; García-Fontana C; Andújar-Vera F; González-Salvatierra S; de Haro-Muñoz T; Contreras-Bolívar V; García-Fontana B; Muñoz-Torres M
    Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33919113
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.
    Kim I; Noh ES; Kim MS; Jang JH; Jeon TY; Choi HW; Cho SY
    Medicine (Baltimore); 2023 Feb; 102(6):e32800. PubMed ID: 36820543
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Alkaline Phosphatase Replacement Therapy for Hypophosphatasia in Development and Practice.
    Bowden SA; Foster BL
    Adv Exp Med Biol; 2019; 1148():279-322. PubMed ID: 31482504
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.
    Okazaki Y; Kitajima H; Mochizuki N; Kitaoka T; Michigami T; Ozono K
    Eur J Pediatr; 2016 Mar; 175(3):433-7. PubMed ID: 26459154
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
    Glotov OS; Savostyanov KV; Nagornova TS; Chernov AN; Fedyakov MA; Raspopova AN; Krasnoukhov KN; Danilov LG; Moiseeva NV; Kalinin RS; Tsai VV; Eismont YA; Voinova VY; Vitebskaya AV; Gurkina EY; Kuzenkova LM; Sosnina IB; Pushkov AA; Zhanin IS; Zakharova EY
    Int J Mol Sci; 2022 Oct; 23(21):. PubMed ID: 36361766
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.
    Whyte MP; Rockman-Greenberg C; Ozono K; Riese R; Moseley S; Melian A; Thompson DD; Bishop N; Hofmann C
    J Clin Endocrinol Metab; 2016 Jan; 101(1):334-42. PubMed ID: 26529632
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms.
    Fujisawa Y; Kitaoka T; Ono H; Nakashima S; Ozono K; Ogata T
    Front Endocrinol (Lausanne); 2020; 11():590455. PubMed ID: 33391183
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Gene Therapy Using Adeno-Associated Virus Serotype 8 Encoding TNAP-D
    Kinoshita Y; Mohamed FF; Amadeu de Oliveira F; Narisawa S; Miyake K; Foster BL; Millán JL
    J Bone Miner Res; 2021 Sep; 36(9):1835-1849. PubMed ID: 34076297
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Four novel mutations in the
    Xu L; Pang Q; Jiang Y; Wang O; Li M; Xing X; Xia W
    Biosci Rep; 2018 Aug; 38(4):. PubMed ID: 29724887
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation.
    Reis FS; Gomes DC; Arantes HP; Lazaretti-Castro M
    Arch Endocrinol Metab; 2021 May; 64(5):623-629. PubMed ID: 34033304
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hypophosphatasia.
    Fenn JS; Lorde N; Ward JM; Borovickova I
    J Clin Pathol; 2021 Oct; 74(10):635-640. PubMed ID: 33931563
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia.
    Scott LJ
    Drugs; 2016 Feb; 76(2):255-62. PubMed ID: 26744272
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.