Author:
Borsatto Taciane,Sperb-Ludwig Fernanda,Pinto Louise LC,De Luca Gisele R,Carvalho Francisca L,De Souza Carolina FM,De Medeiros Paula FV,Lourenço Charles M,Filho Reinaldo LO,Neto Eurico C,Bernardi Pricila,Leistner-Segal Sandra,Schwartz Ida VD
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference28 articles.
1. Hymes J, Wolf B: Biotinidase and its roles in biotin metabolism. Clin Chim Acta. 1996, 255: 1-11. 10.1016/0009-8981(96)06396-6.
2. Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL: Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta. 1983, 131: 273-281. 10.1016/0009-8981(83)90096-7.
3. Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL, Parker WD, Howell DM, Hurst DL: Phenotypic variation in biotinidase deficiency. J Pediatr. 1983, 103: 233-237. 10.1016/S0022-3476(83)80351-5.
4. Bay LB, de Pinho S, Eiroa HD, Otegui I, Rodriguez R: [The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening]. Arch Argent Pediatr. 2010, 108: e13-e16.
5. Wastell HJ, Bartlett K, Dale G, Shein A: Biotinidase deficiency: a survey of 10 cases. Arch Dis Child. 1988, 63: 1244-1249. 10.1136/adc.63.10.1244.
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