Hearing Loss in Biotinidase Deficiency: Genotype-Phenotype Correlation

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

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

Worldwide survey of neonatal screening for biotinidase deficiency

Barry Wolf · Journal of Inherited Metabolic Disease · 1991 · 182 citations

Medicine, Child Health, Pediatrics +16

Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency

Barry Wolf, Robert F. Spencer, Tucker Gleason · The Journal of Pediatrics · 2002 · 89 citations

Health Professions, Audiology, Pediatrics +14

Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis

Robert J. Pomponio, Jeanne Hymes, Thomas Reynolds et al. · Pediatric Research · 1997 · 84 citations

Life Sciences, Genetics, Molecular Genetics +13