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 *

206 related articles for article (PubMed ID: 18974016)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.
    Aoki Y; Suzuki Y; Li X; Sakamoto O; Chikaoka H; Takita S; Narisawa K
    Pediatr Res; 1997 Dec; 42(6):849-54. PubMed ID: 9396568
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
    Sakamoto O; Suzuki Y; Li X; Aoki Y; Hiratsuka M; Suormala T; Baumgartner ER; Gibson KM; Narisawa K
    Pediatr Res; 1999 Dec; 46(6):671-6. PubMed ID: 10590022
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
    Packman S; Caswell N; Gonzalez-Rios MC; Kadlecek T; Cann H; Rassin D; McKay C
    Am J Hum Genet; 1984 Jan; 36(1):80-92. PubMed ID: 6141728
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
    Burri BJ; Sweetman L; Nyhan WL
    J Clin Invest; 1981 Dec; 68(6):1491-5. PubMed ID: 6798072
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
    Thuy LP; Belmont J; Nyhan WL
    Prenat Diagn; 1999 Feb; 19(2):108-12. PubMed ID: 10215065
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.
    Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association ; Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health ; Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Feb; 51(1):129-135. PubMed ID: 35576117
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.
    Mayende L; Swift RD; Bailey LM; Soares da Costa TP; Wallace JC; Booker GW; Polyak SW
    J Mol Med (Berl); 2012 Jan; 90(1):81-8. PubMed ID: 21894551
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)].
    Sakamoto O; Narisawa K
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):219-22. PubMed ID: 9645047
    [No Abstract]   [Full Text] [Related]  

  • 14. Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
    Suormala T; Fowler B; Jakobs C; Duran M; Lehnert W; Raab K; Wick H; Baumgartner ER
    Eur J Pediatr; 1998 Jul; 157(7):570-5. PubMed ID: 9686819
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
    Dupuis L; Leon-Del-Rio A; Leclerc D; Campeau E; Sweetman L; Saudubray JM; Herman G; Gibson KM; Gravel RA
    Hum Mol Genet; 1996 Jul; 5(7):1011-6. PubMed ID: 8817339
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
    Thuy LP; Jurecki E; Nemzer L; Nyhan WL
    Clin Chim Acta; 1999 Jun; 284(1):59-68. PubMed ID: 10437643
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.