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.
10. Biotin in metabolism and its relationship to human disease. Pacheco-Alvarez D; Solórzano-Vargas RS; Del Río AL Arch Med Res; 2002; 33(5):439-47. PubMed ID: 12459313 [TBL] [Abstract][Full Text] [Related]
11. The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family. Torkamandi S; Rezaei S; Mirfakhraie R; Golmohamadi S; Gholami M Mol Biol Rep; 2020 May; 47(5):4021-4027. PubMed ID: 32281057 [TBL] [Abstract][Full Text] [Related]
12. Regulation of immunological and inflammatory functions by biotin. Kuroishi T Can J Physiol Pharmacol; 2015 Dec; 93(12):1091-6. PubMed ID: 26168302 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia. Tanzer F; Sancaktar M; Buyukkayhan D J Pediatr Endocrinol Metab; 2009 Dec; 22(12):1113-6. PubMed ID: 20333870 [TBL] [Abstract][Full Text] [Related]
16. Biotin-dependent regulation of gene expression in human cells. León-Del-Río A J Nutr Biochem; 2005 Jul; 16(7):432-4. PubMed ID: 15992685 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. Suormala TM; Baumgartner ER; Wick H; Scheibenreiter S; Schweitzer S J Inherit Metab Dis; 1990; 13(1):76-92. PubMed ID: 2109151 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]