Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

Barry Wolf, Robert E. Grier, Richard J. Allen et al. · Clinica Chimica Acta · 1983 · 348 citations

Life Sciences, Biochemistry, Molecular Biology +13

Biotinidase deficiency: Initial clinical features and rapid diagnosis

Barry Wolf, Gregory S. Heard, Karen Weissbecker et al. · Annals of Neurology · 1985 · 170 citations

Medicine, Neurology, Pediatrics +9

A screening method for biotinidase deficiency in newborns.

Gregory S. Heard, Julie R. Secor McVoy, Barry Wolf · Clinical Chemistry · 1984 · 147 citations

Life Sciences, Biochemistry, Pediatrics +17

Biotin deficiency enhances the inflammatory response of human dendritic cells

Sudhanshu Agrawal, Anshu Agrawal, Hamid M. Said · American Journal of Physiology-Cell Physiology · 2016 · 127 citations · Full text

Life Sciences, Immunology, Nutritional Sciences +17