Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

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

A NEW COUPLING COMPONENT FOR SULFANILAMIDE DETERMINATION

A. C. Bratton, E. K. Marshall · Journal of Biological Chemistry · 1939 · 2.9K citations · Full text

Natural Sciences, Chemistry, Pharmaceutical Analysis +6

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

Urinary Excretion of l-Carnitine and Acylcarnitines by Patients with Disorders of Organic Acid Metabolism: Evidence for Secondary Insufficiency of l-Carnitine

R. A. Chalmers, Charles R. Roe, T. E. Stacey et al. · Pediatric Research · 1984 · 251 citations

Pharmacy, Biochemistry, Excretion +5

Phenotypic variation in biotinidase deficiency

Barry Wolf, Robert E. Grier, Richard J. Allen et al. · The Journal of Pediatrics · 1983 · 196 citations

Life Sciences, Genetics, Nutritional Sciences +13