Associated Papers
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.
Silva GCV et al.
Genetics and Molecular Biology, 2022
Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.
Carvalho NO et al.
Journal of Medical Screening, 2020
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T et al.
Plos One, 2017
Forty-eight novel mutations causing biotinidase deficiency.
Procter M et al.
Molecular Genetics and Metabolism, 2016
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
Bottin L et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2015
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.
Senanayake DN et al.
Molecular Genetics and Metabolism Reports, 2015
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Borsatto T et al.
Bmc Medical Genetics, 2014
Analysis of mutations causing biotinidase deficiency.
Pindolia K et al.
Human Mutation, 2010
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
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