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 *

146 related articles for article (PubMed ID: 2515372)

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

  • 22. 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]  

  • 23. 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]  

  • 24. Biotin holocarboxylase synthetase deficiency.
    Sweetman L; Burri BJ; Nyhan WL
    Ann N Y Acad Sci; 1985; 447():288-96. PubMed ID: 3860175
    [No Abstract]   [Full Text] [Related]  

  • 25. [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]  

  • 26. 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]  

  • 27. [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]  

  • 28. [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]  

  • 29. Two forms of biotin-responsive multiple carboxylase deficiency.
    Sweetman L
    J Inherit Metab Dis; 1981; 4(2):53-4. PubMed ID: 6790844
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.
    Touma E; Suormala T; Baumgartner ER; Gerbaka B; Ogier de Baulny H; Loiselet J
    J Inherit Metab Dis; 1999 Apr; 22(2):115-22. PubMed ID: 10234606
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.
    Aoki Y; Suzuki Y; Sakamoto O; Li X; Takahashi K; Ohtake A; Sakuta R; Ohura T; Miyabayashi S; Narisawa K
    Biochim Biophys Acta; 1995 Dec; 1272(3):168-74. PubMed ID: 8541348
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Revisiting the administration of biotin to children with biotin-responsive disorders.
    Wolf B
    Mol Genet Metab; 2022; 137(1-2):225-227. PubMed ID: 35843775
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
    Holme E; Jacobson CE; Kristiansson B
    J Inherit Metab Dis; 1988; 11(3):270-6. PubMed ID: 3148068
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Mechanism of biotin-responsive combined carboxylase deficiency.
    Ghneim HK; Bartlett K
    Lancet; 1982 May; 1(8282):1187-8. PubMed ID: 6122961
    [No Abstract]   [Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 8.