These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

97 related articles for article (PubMed ID: 18394115)

  • 1. Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria.
    Søvik O; Boman H
    Acta Paediatr; 2008 May; 97(5):665-7. PubMed ID: 18394115
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.
    Babiker AM; Al Gadi I; Al-Jurayyan NA; Al Nemri AM; Al Haboob AA; Al Boukai AA; Al Zahrani A; Habib HA
    BMC Res Notes; 2014 Nov; 7():783. PubMed ID: 25371233
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.
    Durmaz E; Zou M; Al-Rijjal RA; Bircan I; Akçurin S; Meyer B; Shi Y
    Clin Endocrinol (Oxf); 2012 Sep; 77(3):363-9. PubMed ID: 22443290
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A.
    Dursun F; Özgürhan G; Kırmızıbekmez H; Keskin E; Hacıhamdioğlu B
    J Clin Res Pediatr Endocrinol; 2019 Feb; 11(1):34-40. PubMed ID: 30282619
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation update and long-term outcome after treatment with active vitamin D
    Chi Y; Sun J; Pang L; Jiajue R; Jiang Y; Wang O; Li M; Xing X; Hu Y; Zhou X; Meng X; Xia W
    Osteoporos Int; 2019 Feb; 30(2):481-489. PubMed ID: 30382318
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene.
    Giannakopoulos A; Efthymiadou A; Chrysis D
    Horm Res Paediatr; 2017; 87(1):58-63. PubMed ID: 27287609
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin.
    Zalewski A; Ma NS; Legeza B; Renthal N; Flück CE; Pandey AV
    J Clin Endocrinol Metab; 2016 Sep; 101(9):3409-18. PubMed ID: 27399352
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I.
    Tahir S; Demirbilek H; Ozbek MN; Baran RT; Tanriverdi S; Hussain K
    Horm Res Paediatr; 2016; 85(5):309-17. PubMed ID: 26982175
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.
    Özcabı B; Tahmiscioğlu Bucak F; Jaferova S; Oruç Ç; Adrovic A; Ceylaner S; Ercan O; Evliyaoğlu O
    J Clin Res Pediatr Endocrinol; 2016 Dec; 8(4):484-489. PubMed ID: 27353739
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.
    Demir K; Kattan WE; Zou M; Durmaz E; BinEssa H; Nalbantoğlu Ö; Al-Rijjal RA; Meyer B; Özkan B; Shi Y
    PLoS One; 2015; 10(7):e0131376. PubMed ID: 26132292
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Phenylketonuria as a model system for DNA diagnosis of hereditary disorders].
    Meijer H; Hekking M; van den Enden AT; Jongbloed RJ; Schrander-Stumpel CT; Geraedts JP
    Ned Tijdschr Geneeskd; 1990 Oct; 134(40):1954-8. PubMed ID: 1978255
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1.
    Alzahrani AS; Zou M; Baitei EY; Alshaikh OM; Al-Rijjal RA; Meyer BF; Shi Y
    J Clin Endocrinol Metab; 2010 Sep; 95(9):4176-83. PubMed ID: 20534770
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A.
    Ozden A; Doneray H
    J Pediatr Endocrinol Metab; 2021 Jun; 34(6):781-789. PubMed ID: 33823104
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A.
    Hu WW; Ke YH; He JW; Fu WZ; Wang C; Zhang H; Yue H; Gu JM; Zhang ZL
    J Pediatr Endocrinol Metab; 2014 Mar; 27(3-4):335-41. PubMed ID: 24197768
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.
    Kitanaka S; Takeyama K; Murayama A; Sato T; Okumura K; Nogami M; Hasegawa Y; Niimi H; Yanagisawa J; Tanaka T; Kato S
    N Engl J Med; 1998 Mar; 338(10):653-61. PubMed ID: 9486994
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by
    Aftab S; Khan SA; Malik MI; Imran A; Anjum MN; Saeed A; Qureshi AA; Cheema HA
    J Pediatr Endocrinol Metab; 2023 Feb; 36(2):152-157. PubMed ID: 36524979
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up.
    Li Y; Yuan X; Chen R; Lin X; Shangguan H; Yang X; Zhang Y
    Orphanet J Rare Dis; 2020 Oct; 15(1):273. PubMed ID: 33004071
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].
    Qu YJ; Song F; Jin YW; Wang H; Zhang YM; Qin JL; Qiu L
    Zhonghua Er Ke Za Zhi; 2008 Feb; 46(2):115-9. PubMed ID: 19099685
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.
    Al Homyani DK; Alhemaiani SK
    Front Endocrinol (Lausanne); 2022; 13():862022. PubMed ID: 35663328
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?
    Wiedemann A; Leheup B; Battaglia-Hsu SF; Jonveaux P; Jeannesson E; Feillet F
    Mol Genet Metab; 2013; 110 Suppl():S62-5. PubMed ID: 24051226
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.