Author:
Sarafoglou K.,Bentler K.,Gaviglio A.,Redlinger-Grosse K.,Anderson C.,McCann M.,Bloom B.,Babovic-Vuksanovic D.,Gavrilov D.,Berry S. A.
Subject
Genetics(clinical),Genetics
Reference19 articles.
1. Baumgartner ER, Suormala T (2000) Biotin responsive multiple carboxylase deficiency. In: Fernandes J, Saudubray JM, van den Berghe G (eds). Inborn metabolic diseases. Diagnosis and treatment, 3rd edn. Springer, New York, p 276
2. Baykal T, Gokcay G, Gokdemir Y et al (2005) Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. J Inherit Metab Dis 28(6):903–912
3. Cole H, Reynolds TR, Lockyer JM et al (1994) Human serum biotinidase: cDNA cloning, sequence, and characterization. J Biol Chem 269:6566–6570
4. Hoffmann GF, Schulze A (2009) Organic acidurias. In: Sarafoglou K, Hoffmann GF, Roth KS (eds). Pediatric endocrinology and inborn errors of metabolism. McGraw Hill, New York, pp 83–125
5. Hymes J, Stanley CM, Wolf B (2001) Mutations in BTD causing biotinidase deficiency. Hum Mutat 18:375–381
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