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 *

134 related articles for article (PubMed ID: 38928282)

  • 21. 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]  

  • 22. [Importance of biotin metabolism].
    Rodríguez Meléndez R
    Rev Invest Clin; 2000; 52(2):194-9. PubMed ID: 10846444
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Enzyme studies in biotin-responsive disorders.
    Bartlett K; Ghneim HK; Stirk HJ; Wastell H
    J Inherit Metab Dis; 1985; 8 Suppl 1():46-52. PubMed ID: 2864473
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. Holocarboxylase synthetase knockout is embryonic lethal in mice.
    Sadri M; Wang H; Kuroishi T; Li Y; Zempleni J
    PLoS One; 2022; 17(4):e0265539. PubMed ID: 35385533
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. [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]  

  • 29. Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking.
    Liu S; Zhang Y; Deng Z; He H; Zheng X; Hong Q; Luo X
    Int J Mol Sci; 2023 Jun; 24(12):. PubMed ID: 37373384
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Biotinidase: its role in biotinidase deficiency and biotin metabolism.
    Wolf B
    J Nutr Biochem; 2005 Jul; 16(7):441-5. PubMed ID: 15992688
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.
    Afroze B; Wasay M
    J Coll Physicians Surg Pak; 2013 Nov; 23(10):823-5. PubMed ID: 24169397
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder.
    Hernández-Vázquez A; Wolf B; Pindolia K; Ortega-Cuellar D; Hernández-González R; Heredia-Antúnez A; Ibarra-González I; Velázquez-Arellano A
    Mol Genet Metab; 2013 Nov; 110(3):248-54. PubMed ID: 24075304
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.
    Pacheco-Alvarez D; Solórzano-Vargas RS; Gravel RA; Cervantes-Roldán R; Velázquez A; León-Del-Río A
    J Biol Chem; 2004 Dec; 279(50):52312-8. PubMed ID: 15456772
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
    Forny P; Wicht A; Rüfenacht V; Cremonesi A; Häberle J
    J Inherit Metab Dis; 2022 May; 45(3):605-620. PubMed ID: 35195902
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Analysis of mutations causing biotinidase deficiency.
    Pindolia K; Jordan M; Wolf B
    Hum Mutat; 2010 Sep; 31(9):983-91. PubMed ID: 20556795
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea.
    Piraccini BM; Berardesca E; Fabbrocini G; Micali G; Tosti A
    G Ital Dermatol Venereol; 2019 Oct; 154(5):557-566. PubMed ID: 31638351
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Biotinidase deficiency characterized by skin and hair findings.
    Yang Y; Yang JY; Chen XJ
    Clin Dermatol; 2020; 38(4):477-483. PubMed ID: 32972606
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.