Documentos relacionados

1. Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
2. Biotinidase deficiency: What have we learned in forty years?
3. Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
4. Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan.
5. Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.
6. Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening.
7. Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
8. Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
9. A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity.
10. Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.