Condition: Biotinidase Deficiency


rs1004027979 in BTD gene and Biotinidase Deficiency PMID 26810761 2016 Forty-eight novel mutations causing biotinidase deficiency.

PMID 10400129 1999 Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

PMID 10801053 2000 Novel mutations cause biotinidase deficiency in Turkish children.

PMID 20224900 2010 Profound biotinidase deficiency: a rare disease among native Swedes.

PMID 25423671 2015 Mutations in BTD gene causing biotinidase deficiency: a regional report.

PMID 10206677 1998 Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.

PMID 9654207 1998 Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

PMID 14707518 2003 Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.

PMID 12227467 2002 Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

PMID 22698809 2012 Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

PMID 15776412 2005 Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

PMID 22378278 2012 Clinical utility gene card for: biotinidase deficiency.

PMID 9099842 1997 Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.

PMID 22475884 2012 Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

PMID 25754625 2015 Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

PMID 15060693 2004 Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.

PMID 28498829 2017 Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

PMID 9158148 1997 Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.

PMID 25174816 2014 Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.

PMID 27657684 2017 Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.

PMID 21752405 2011 [Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

PMID 17382128 2007 Hearing loss in biotinidase deficiency: genotype-phenotype correlation.

PMID 29359854 2018 Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.

PMID 9232193 1997 Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

PMID 27625817 2012 A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots.

PMID 20549359 2010 High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

PMID 9375914 1997 Profound biotinidase deficiency in two asymptomatic adults.

PMID 11313766 2001 Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

PMID 20539236 2010 Technical standards and guidelines for the diagnosis of biotinidase deficiency.

PMID 20981092 2010 A map of human genome variation from population-scale sequencing.

PMID 12618081 2003 Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.

PMID 20556795 2010 Analysis of mutations causing biotinidase deficiency.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 24525934 2014 Optic neuropathy due to biotinidase deficiency in a 19-year-old man.

PMID 23644139 2013 High incidence of partial biotinidase deficiency cases in newborns of Greek origin.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 25333069 2014 Disease variants in genomes of 44 centenarians.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 14628140 2003 Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.

PMID 25967232 2015 High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.

PMID 24516753 2014 Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

PMID 26361991 2015 Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

PMID 19757147 2009 High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

PMID 16435182 2005 Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.

PMID 9396567 1997 Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.

PMID 27329734 2016 Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

PMID 17185019 2007 Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.

PMID 12359137 2003 Seventeen novel mutations that cause profound biotinidase deficiency.

PMID 23481307 2014 Biotinidase deficiency: novel mutations in Algerian patients.

PMID 27207447 2017 Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.

PMID 9506660 1998 Delayed-onset profound biotinidase deficiency.

PMID 27629047 2016 Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

PMID 19728141 2009 Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.

PMID 20083419 2010 The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

PMID 25144890 2015 Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.

PMID 28971021 2017 Neonatal screening for biotinidase deficiency: A 30-year single center experience.

PMID 26589311 2016 Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

PMID 11865279 2002 Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.

PMID 10801060 2000 Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.

PMID 26334177 2016 Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

PMID 24932929 2014 Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.

PMID 22011816 2011 Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.

PMID 29353266 2018 Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.

PMID 22106832 2012 Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

PMID 10394193 1999 [Biotinidase deficiency: importance of its neonatal diagnosis and early treatment].

PMID 11380987 2001 The nitrilase superfamily: classification, structure and function.

PMID 18645204 2008 Profound biotinidase deficiency in a child with predominantly spinal cord disease.

PMID 21907891 2011 Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.

PMID 24797656 2014 Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

PMID 11668630 2001 Mutations in BTD causing biotinidase deficiency.

PMID 8894703 1996 Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.

PMID 7550325 1995 Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.

rs1057516440 in HACL1;BTD gene and Biotinidase Deficiency PMID 15059618 2004 Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase.