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7. Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency. Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association ; Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health ; Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Feb; 51(1):129-135. PubMed ID: 35576117 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Effects of Biotin Deficiency on Biotinylated Proteins and Biotin-Related Genes in the Rat Brain. Yuasa M; Aoyama Y; Shimada R; Sawamura H; Ebara S; Negoro M; Fukui T; Watanabe T J Nutr Sci Vitaminol (Tokyo); 2016; 62(2):81-7. PubMed ID: 27264091 [TBL] [Abstract][Full Text] [Related]
11. Biotinidase deficiency and our champagne legacy. Wolf B Gene; 2016 Sep; 589(2):142-50. PubMed ID: 26456103 [TBL] [Abstract][Full Text] [Related]
13. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Wolf B Genet Med; 2012 Jun; 14(6):565-75. PubMed ID: 22241090 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders. Wolf B Mol Genet Metab; 2019 Aug; 127(4):321-324. PubMed ID: 31320189 [No Abstract] [Full Text] [Related]
17. Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. Pindolia K; Jordan M; Guo C; Matthews N; Mock DM; Strovel E; Blitzer M; Wolf B Mol Genet Metab; 2011 Feb; 102(2):161-9. PubMed ID: 21051254 [TBL] [Abstract][Full Text] [Related]
18. A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. Mayende L; Swift RD; Bailey LM; Soares da Costa TP; Wallace JC; Booker GW; Polyak SW J Mol Med (Berl); 2012 Jan; 90(1):81-8. PubMed ID: 21894551 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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] [Next] [New Search]