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 *

159 related articles for article (PubMed ID: 10437643)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
    Suormala T; Fowler B; Duran M; Burtscher A; Fuchshuber A; Tratzmüller R; Lenze MJ; Raab K; Baur B; Wick H; Baumgartner R
    Pediatr Res; 1997 May; 41(5):666-73. PubMed ID: 9128289
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
    Burri BJ; Sweetman L; Nyhan WL
    Am J Hum Genet; 1985 Mar; 37(2):326-37. PubMed ID: 3920902
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
    Fuchshuber A; Suormala T; Roth B; Duran M; Michalk D; Baumgartner ER
    Eur J Pediatr; 1993 May; 152(5):446-9. PubMed ID: 8319716
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
    Sherwood WG; Saunders M; Robinson BH; Brewster T; Gravel RA
    J Pediatr; 1982 Oct; 101(4):546-50. PubMed ID: 6811711
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.
    Van Coster RN; Janssens S; Misson JP; Verloes A; Leroy JG
    Prenat Diagn; 1998 Oct; 18(10):1041-4. PubMed ID: 9826895
    [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. 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]  

  • 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. 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]  

  • 17. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.
    Roth KS; Yang W; Foremann JW; Rothman R; Segal S
    J Pediatr; 1980 May; 96(5):845-9. PubMed ID: 7365583
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis.
    Sweetman FR; Gibson KM; Sweetman L; Nyhan WL; Chin H; Swartz W; Jones OW
    Prenat Diagn; 1986; 6(3):187-94. PubMed ID: 3725738
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
    Nyhan WL; Willis M; Barshop BA; Gangoiti J
    J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S79-82. PubMed ID: 19357990
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.
    Sakamoto O; Suzuki Y; Li X; Aoki Y; Hiratsuka M; Holme E; Kudoh J; Shimizu N; Narisawa K
    Eur J Pediatr; 2000; 159(1-2):18-22. PubMed ID: 10653324
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.