BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

244 related articles for article (PubMed ID: 17407983)

  • 1. Holocarboxylase synthetase deficiency: report of one case.
    Chou IC; Wang CS; Lin WD; Lin HC; Tsai CH; Wang TR; Tsai FJ
    Acta Paediatr Taiwan; 2006; 47(6):309-11. PubMed ID: 17407983
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
    Morrone A; Malvagia S; Donati MA; Funghini S; Ciani F; Pela I; Boneh A; Peters H; Pasquini E; Zammarchi E
    Am J Med Genet; 2002 Jul; 111(1):10-8. PubMed ID: 12124727
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].
    Wang T; Ye J; Han LS; Qiu WJ; Zhang HW; Zhang YF; Gao XL; Wang Y; Gu XF
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 Aug; 11(8):609-12. PubMed ID: 19695181
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
    Hwu WL; Suzuki Y; Yang X; Li X; Chou SP; Narisawa K; Tsai WY
    J Formos Med Assoc; 2000 Feb; 99(2):174-7. PubMed ID: 10770035
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
    Tammachote R; Janklat S; Tongkobpetch S; Suphapeetiporn K; Shotelersuk V
    Clin Genet; 2010 Jul; 78(1):88-93. PubMed ID: 20095979
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
    Baumgartner ER; Suormala T
    Int J Vitam Nutr Res; 1997; 67(5):377-84. PubMed ID: 9350481
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
    Hui J; Law E; Chung C; Fung S; Yuen P; Tang N
    World J Pediatr; 2012 Aug; 8(3):278-80. PubMed ID: 21874615
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.
    Yokoi K; Ito T; Maeda Y; Nakajima Y; Kurono Y; Sugiyama N; Togari H
    Brain Dev; 2009 Nov; 31(10):775-8. PubMed ID: 19201116
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
    Bailey LM; Ivanov RA; Jitrapakdee S; Wilson CJ; Wallace JC; Polyak SW
    Hum Mutat; 2008 Jun; 29(6):E47-57. PubMed ID: 18429047
    [TBL] [Abstract][Full Text] [Related]  

  • 10. First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
    Malvagia S; Morrone A; Pasquini E; Funghini S; la Marca G; Zammarchi E; Donati MA
    Prenat Diagn; 2005 Dec; 25(12):1117-9. PubMed ID: 16231399
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
    Santer R; Muhle H; Suormala T; Baumgartner ER; Duran M; Yang X; Aoki Y; Suzuki Y; Stephani U
    Mol Genet Metab; 2003 Jul; 79(3):160-6. PubMed ID: 12855220
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in the holocarboxylase synthetase gene HLCS.
    Suzuki Y; Yang X; Aoki Y; Kure S; Matsubara Y
    Hum Mutat; 2005 Oct; 26(4):285-90. PubMed ID: 16134170
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review.
    Wu HR; Chen KJ; Hsiao HP; Chao MC
    J Pediatr Endocrinol Metab; 2020 Nov; 33(11):1481-1486. PubMed ID: 32841162
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
    Tang NL; Hui J; Yong CK; Wong LT; Applegarth DA; Vallance HD; Law LK; Fung SL; Mak TW; Sung YM; Cheung KL; Fok TF
    Clin Biochem; 2003 Mar; 36(2):145-9. PubMed ID: 12633764
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Biotinidase deficiency. Progressive encephalopathy curable with biotin].
    Héron B; Gautier A; Dulac O; Ponsot G
    Arch Fr Pediatr; 1993 Dec; 50(10):875-8. PubMed ID: 8053766
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Management of a patient with holocarboxylase synthetase deficiency.
    Van Hove JL; Josefsberg S; Freehauf C; Thomas JA; Thuy le P; Barshop BA; Woontner M; Mock DM; Chiang PW; Spector E; Meneses-Morales I; Cervantes-Roldán R; León-Del-Río A
    Mol Genet Metab; 2008 Dec; 95(4):201-5. PubMed ID: 18974016
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
    Coşkun T; Tokatli A; Ozalp I
    Turk J Pediatr; 1994; 36(4):267-78. PubMed ID: 7825232
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Holocarboxylase synthetase deficiency induced by
    Li KY; Tang JP; Jiang YL; Yue SZ; Zhou B; Wen R; Zhou ZT; Wei Z
    Zhongguo Dang Dai Er Ke Za Zhi; 2023 Apr; 25(4):401-407. PubMed ID: 37073846
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
    Yang X; Aoki Y; Li X; Sakamoto O; Hiratsuka M; Kure S; Taheri S; Christensen E; Inui K; Kubota M; Ohira M; Ohki M; Kudoh J; Kawasaki K; Shibuya K; Shintani A; Asakawa S; Minoshima S; Shimizu N; Narisawa K; Matsubara Y; Suzuki Y
    Hum Genet; 2001 Nov; 109(5):526-34. PubMed ID: 11735028
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
    Pérez-Monjaras A; Cervantes-Roldán R; Meneses-Morales I; Gravel RA; Reyes-Carmona S; Solórzano-Vargas S; González-Noriega A; León-Del-Río A
    J Biol Chem; 2008 Dec; 283(49):34150-8. PubMed ID: 18845537
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.