High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil-Reference-Cited by-同舟云学术

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

Published:2015 Issue: Volume: Page:103-107
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Lara Marilis T.,Gurgel-Giannetti Juliana,Aguiar Marcos J. B.,Ladeira Roberto V. P.,Carvalho Nara O.,del Castillo Dora M.,Viana Marcos B.,Januario José N.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_447

Reference24 articles.

1. Borsatto T, Sperb-Ludwig F, Pinto LL et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96

2. Cowan TM, Blitzer MG, Wolf B, Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee (2010) Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med 12:464–470

3. Cowan TM, Kazerouni NN, Dharajiya N et al (2012) Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. Mol Genet Metab 106:485–487

4. Dunkel G, Scriver CR, Clow CL et al (1989) Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. J Inherit Metab Dis 12:131–138

5. González EC, Marrero N, Frómeta A, Herrera D, Castells E, Pérez PL (2006) Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. Clin Chim Acta 369:35–39

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1. High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy;International Journal of Environmental Research and Public Health;2022-07-02

2. Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening;International Journal of Environmental Research and Public Health;2021-02-09

3. Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil;Journal of Medical Screening;2019-12-04

4. Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil;American Journal of Medical Genetics Part A;2019-03-26

5. Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients;PLOS ONE;2017-05-12