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27. Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. Norrgard KJ; Pomponio RJ; Swango KL; Hymes J; Reynolds TR; Buck GA; Wolf B Biochem Mol Med; 1997 Jun; 61(1):22-7. PubMed ID: 9232193 [TBL] [Abstract][Full Text] [Related]
28. Requirement of high biotin doses in a case of biotinidase deficiency. Riudor E; Vilaseca MA; Briones P; Ribes A; Suñé J; Martorell R; Macaya A; Roig M; Ballabriga A J Inherit Metab Dis; 1989; 12(3):338-9. PubMed ID: 2515382 [No Abstract] [Full Text] [Related]
29. Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin. Diamantopoulos N; Painter MJ; Wolf B; Heard GS; Roe C Neurology; 1986 Aug; 36(8):1107-9. PubMed ID: 3736876 [TBL] [Abstract][Full Text] [Related]
31. Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency. Strom CM; Levine EM Obstet Gynecol; 1998 Oct; 92(4 Pt 2):644-6. PubMed ID: 9764646 [TBL] [Abstract][Full Text] [Related]
32. Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations. Blanton SH; Pandya A; Landa BL; Javaheri R; Xia X; Nance WE; Pomponio RJ; Norrgard KJ; Swango KL; Demirkol M; Gülden H; Coskun T; Tokatli A; Ozalp I; Wolf B Hum Hered; 2000; 50(2):102-11. PubMed ID: 10799968 [TBL] [Abstract][Full Text] [Related]
33. Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. Pomponio RJ; Reynolds TR; Cole H; Buck GA; Wolf B Nat Genet; 1995 Sep; 11(1):96-8. PubMed ID: 7550325 [TBL] [Abstract][Full Text] [Related]
34. Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. Pomponio RJ; Ozand PT; Al Essa M; Wolf B J Inherit Metab Dis; 2000 Mar; 23(2):185-7. PubMed ID: 10801060 [No Abstract] [Full Text] [Related]