Associated Papers
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.
Jezela-Stanek A et al.
Genes, 2022
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Cicalini I et al.
International Journal of Environmental Research and Public Health, 2021
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Maguolo A et al.
Frontiers in Pediatrics, 2021
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
Radelfahr F et al.
Neurology. Genetics, 2020
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
Cowan TM et al.
Molecular Genetics and Metabolism, 2012
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
Milánkovics I et al.
Molecular Genetics and Metabolism, 2007
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.
Neto EC et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2004
Mutations in BTD causing biotinidase deficiency.
Hymes J et al.
Human Mutation, 2001
[Maple Syrup Urine Disease in a newborn infant].
Mazur A et al.
Medycyna Wieku Rozwojowego, 0
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