Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening (original) (raw)
Novel mutations cause biotinidase deficiency in Turkish children
Tolga Baykal
Journal of inherited metabolic disease, 2000
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Neonatal screening for biotinidase deficiency in north eastern italy
Bernardo Bernardina
European Journal of Pediatrics, 1988
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Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary
Bela Csokay
Molecular Genetics and Metabolism, 2007
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Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
Andreas Schulze
Human Genetics, 1998
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Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates
Helio Pedro
Human Mutation, 2005
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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
Rocksane De Carvalho Norton
Molecular Genetics and Metabolism, 2014
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Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients
Sandra Leistner-Segal, Pricila Bernardi, Taciane Borsatto
BMC Medical Genetics, 2014
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First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children
Eresha Jasinge
Molecular Genetics and Metabolism Reports, 2015
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Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
anasufiza habib
Molecular Genetics and Metabolism Reports, 2019
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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
Christina Bittar
PloS one, 2017
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Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations
Roberto Giugliani
Brazilian Journal of Medical and Biological Research, 2004
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Identification of a p.Cys33PhefsX36 mutation in an Iranian family withprofound biotinidase deficiency (BTD)
Masoud Garshasbi
Molecular and Biochemical Diagnosis, 2014
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Results of neonatal and selective screening for biotinidase deficiency
Pilar Rodríguez-Pombo
Journal of Inherited Metabolic Disease, 1987
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Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil
Rocksane De Carvalho Norton
Journal of Medical Screening, 2019
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Mutational analysis for biotinidase deficiency of a Greek patients’ cohort ascertained through expanded newborn screening
Yannis Dotsikas
Journal of Human Genetics, 2011
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Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn
B. Lemieux
1989
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Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
Michelle Kruijshaar
European journal of human genetics : EJHG, 2016
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Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
Yin-hsiu Chien
Orphanet Journal of Rare Diseases, 2019
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Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism
Arun K U M A R Dash
Journal of Nepal Paediatric Society, 2021
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Neonatal screening for biotinidase deficiency: Results of a 1-year pilot study
Karen Weissbecker
The Journal of Pediatrics, 1986
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Biotinidase deficiency
ramdas dahiphale
Indian pediatrics, 2008
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The Course of Biotinidase Activities After Neonatal Period in The Screened Newborns and Consequences of The Concordance With Their Genotypes
Gülper Nacarkahya
2021
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High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota
Kyriakie Sarafoglou
Journal of Inherited Metabolic Disease, 2009
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Diagnosis, treatment and follow-up in four children with biotinidase deficiency from pakistan
Bushra Afroze
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High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil
jose luis januario
JIMD Reports, 2015
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The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)
Furhan Iqbal
Molecular Genetics and Metabolism, 2010
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Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene
Anilkumar Sapare
Indian Journal of Pediatrics, 2022
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Statistical approaches for the detection of heterozygotes for biotinidase deficiency
Karen Weissbecker
American Journal of Medical Genetics, 1991
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Clinical utility gene card for: Biotinidase deficiency
Sébastien Küry
European Journal of Human Genetics, 2012
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