Results of neonatal and selective screening for biotinidase deficiency (original) (raw)
Neonatal screening for biotinidase deficiency: Results of a 1-year pilot study
Karen Weissbecker
The Journal of Pediatrics, 1986
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Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn
B. Lemieux
1989
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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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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 Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil
jose luis januario
JIMD Reports, 2015
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Neonatal screening for biotinidase deficiency in north eastern italy
Bernardo Bernardina
European Journal of Pediatrics, 1988
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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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The effect of neonatal jaundice on biotinidase activity
George A Karikas
Early Human Development, 2003
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Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening
Elisabetta Pasquini
Journal of inherited metabolic disease, 2002
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Diagnosis, treatment and follow-up in four children with biotinidase deficiency from pakistan
Bushra Afroze
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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
Christina Bittar
PloS one, 2017
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Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency
Gülper Nacarkahya
Pediatric Allergy and Immunology, 2020
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A two days old newborn with partial biotinidase deficiency presenting with treatment resistant convulsions
Canan Aygün
Journal of Experimental & Clinical Medicine, 2020
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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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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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Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
Andreas Schulze
Human Genetics, 1998
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Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study
İzzettin TOKTAŞ, seyfettin sarıbaş
The Turkish Journal of Pediatrics, 2022
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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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Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary
Bela Csokay
Molecular Genetics and Metabolism, 2007
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Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method
Halil Kazanasmaz
2019
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Biotinidase deficiency and infantile epilepsy: Two case reports
Eresha Jasinge
Sri Lanka Journal of Child Health, 2015
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Novel mutations cause biotinidase deficiency in Turkish children
Tolga Baykal
Journal of inherited metabolic disease, 2000
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Biotinidase deficiency
Rps Tomar
Medical Journal Armed Forces India, 2012
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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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Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India
Seema Kapoor
Journal of clinical and diagnostic research : JCDR, 2015
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Biotinidase deficiency in Pakistani children; what needs to be known and done
Bushra Afroze
JPMA. The Journal of the Pakistan Medical Association, 2012
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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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Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series)
Farzad Ahmadabadi
Iranian Journal of Child Neurology, 2013
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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: Novel mutations and their biochemical and clinical correlates
Tolga Baykal
Human Mutation, 2005
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