Partial biotinidase deficiency: Clinical and biochemical features

Wolf, 1983, Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency, Clin Chim Acta, 131, 273, 10.1016/0009-8981(83)90096-7 Wolf, 1985, Biotinidase deficiency: initial clinical features and rapid diagnosis, Ann Neurol, 18, 614, 10.1002/ana.410180517 Wolf, 1983, Phenotypic variation in biotinidase deficiency, J Pediatr, 103, 233, 10.1016/S0022-3476(83)80351-5 Wolf, 1985, Biotinidase deficiency: a novel vitamin recycling defect, J Inherited Metab Dis, 8, 53, 10.1007/BF01800660 Heard, 1984, A screening method for biotinidase deficiency in newborns, Clin Chem, 30, 125, 10.1093/clinchem/30.1.125 Wolf, 1985, Clinical findings in four children with biotinicase deficiency detected through a statewide neonatal screening program, N Engl J Med, 313, 16, 10.1056/NEJM198507043130104 Wolf B, Heard GS. Worldwide experience in newborn screening for biotinidase deficiency. Pediatrics (in press). Weissbecker, 1989, An automated procedure for measuring biotinidase activity in serum, Clin Chem, 35, 831, 10.1093/clinchem/35.5.831 Sourmala, 1988, Low biotinidase activity in plasma of some pre-term infants: possible source of false-positive screening results, Eur J Pediatr, 147, 478, 10.1007/BF00441970 Weissbecker, 1985, Detection of heterozygotes for biotinidase deficiency, Am J Hum Genet, 37, A81 Weissbecker, 1987, A genetic and biochemical study of variation of normal and abnormal biotinidase activity Dunkel, 1989, Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn, J Inherited Metab Dis, 12, 131, 10.1007/BF01800715 Grier, 1985, Studies of human biotinidase and biotinidase activity Sourmala, 1988, Biotinidase deficiency with residual biotinidase activity, 89