Organic aciduria in late‐onset biotin‐responsive multiple carboxylase deficiency

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 · 343 citations

Cellular Enzymology, Biochemistry, Natural Sciences +7

Phenotypic variation in biotinidase deficiency

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

Biology, Genetic Disorder, Genetics +5

MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES ASSOCIATED WITH DEFECTS IN T-CELL AND B-CELL IMMUNITY

MortonJ. Cowan, Seymour Packman, D. W. Wara et al. · The Lancet · 1979 · 173 citations

Autoimmune Disease, Lymphocyte Development, Immune Cell Development +11

Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency

J. P. G. M. Van Biervliet, L. Bruinvis, Colin van der Heiden et al. · Developmental Medicine & Child Neurology · 1977 · 40 citations

Chronic Lactic Acidaemia, Severe Mental Retardation, Pyruvate Carboxylase Deficiency +8

Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis

Arnold Münnich, Jean‐Marie Saudubray, A Cotisson et al. · European Journal of Pediatrics · 1981 · 30 citations

Biochemistry, Inherited Metabolic Disease, Congenital Lactic Acidosis +3