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 *

153 related articles for article (PubMed ID: 9645047)

  • 1. [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]  

  • 2. [Biotinidase deficiency (late-onset multiple carboxylase deficiency)].
    Sakamoto O; Narisawa K
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):223-4. PubMed ID: 9645048
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [Multiple carboxylase deficiency].
    Andersen JB; Haagerup A; Christensen E
    Ugeskr Laeger; 1998 Feb; 160(8):1151-7. PubMed ID: 9492625
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Inborn errors of biotin metabolism.
    Nyhan WL
    Arch Dermatol; 1987 Dec; 123(12):1696-1698a. PubMed ID: 3318710
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Biotin-responsive multiple carboxylase deficiency].
    Yoshida I
    Ryoikibetsu Shokogun Shirizu; 2000; (32):353-7. PubMed ID: 11212743
    [No Abstract]   [Full Text] [Related]  

  • 9. Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency.
    Morita J; Thuy LP; Sweetman L
    Mol Genet Metab; 1998 Aug; 64(4):250-5. PubMed ID: 9758715
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. [Multiple biotin-dependent carboxylase deficiencies (author's transl)].
    Munnich A; Saudubray JM; Ogier H; Coude FX; Marsac C; Roccichioli F; Labarthe JC; Cazenave C; Laugier J; Charpentier C; Frézal J
    Arch Fr Pediatr; 1981 Feb; 38(2):83-90. PubMed ID: 6112972
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.
    Dupuis L; Campeau E; Leclerc D; Gravel RA
    Mol Genet Metab; 1999 Feb; 66(2):80-90. PubMed ID: 10068510
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.