Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates (original) (raw)
Related papers
Molecular and Biochemical Diagnosis, 2014
Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism
Journal of Nepal Paediatric Society, 2021
Journal of inherited metabolic disease, 2002
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from pakistan
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series)
Iranian journal of child neurology, 2013
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Molecular Genetics and Metabolism Reports, 2019
Molecular Genetics and Metabolism, 2014
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn
1989
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
Human Genetics, 1998
Novel mutations cause biotinidase deficiency in Turkish children
Journal of inherited metabolic disease, 2000
Molecular Genetics and Metabolism Reports, 2015
Biotin and biotinidase deficiency
Expert Review of Endocrinology & Metabolism, 2008
Biotinidase deficiency and infantile epilepsy: Two case reports
Sri Lanka Journal of Child Health, 2015
Medical Journal Armed Forces India, 2012
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients
Sandra Leistner-Segal, Pricila Bernardi, Taciane Borsatto
BMC Medical Genetics, 2014
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
Orphanet Journal of Rare Diseases, 2019
Results of neonatal and selective screening for biotinidase deficiency
Journal of Inherited Metabolic Disease, 1987
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations
Brazilian Journal of Medical and Biological Research, 2004
Congenital Biotinidase Deficiency-Clinching the Diagnosis with Classic Imaging Features
IOSR Journals , 2019
Neonatal screening for biotinidase deficiency in north eastern italy
European Journal of Pediatrics, 1988
Molecular Genetics and Metabolism, 2007
Biotinidase deficiency in Pakistani children; what needs to be known and done
JPMA. The Journal of the Pakistan Medical Association, 2012
Indian Journal of Pediatrics, 2022
Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up
Journal of clinical and diagnostic research : JCDR, 2015
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
PloS one, 2017
2021