Neuropathology of biotinidase deficiency

[1]  L. Sweetman.  Two forms of biotin-responsive multiple carboxylase deficiency , 1981, Journal of Inherited Metabolic Disease.

[2]  U. Wendel.  Disorders of Branched-Chain Amino Acid Metabolism , 1990 .

[3]  T. Suormala,et al.  Biotinidase Deficiency: A Cause of Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome). Report of a Case with Lethal Outcome , 1989, Pediatric Research.

[4]  K. Bartlett,et al.  Biotinidase deficiency: a survey of 10 cases. , 1988, Archives of disease in childhood.

[5]  B. Wolf,et al.  Biotinidase deficiency: Initial clinical features and rapid diagnosis , 1985, Annals of neurology.

[6]  B. Wolf,et al.  Neurologic symptoms of biotinidase deficiency , 1985, Neurology.

[7]  W. Parker,et al.  Deficient biotinidase activity in late-onset multiple carboxylase deficiency. , 1983, The New England journal of medicine.

[8]  G. Feldman,et al.  The biotin-dependent carboxylase deficiencies. , 1982, American journal of human genetics.

[9]  W. Nyhan,et al.  Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. , 1981, The Journal of clinical investigation.

[10]  S. Packman,et al.  The neonatal form of biotin-responsive multiple carboxylase deficiency. , 1981, The Journal of pediatrics.

[11]  K. Roth.  Biotin in clinical medicine--a review. , 1981, The American journal of clinical nutrition.

[12]  J. Thoene,et al.  Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin. , 1981, The New England journal of medicine.

[13]  S. Packman,et al.  Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: A biotin‐responsive disorder , 1980, Annals of neurology.

[14]  K. Roth,et al.  Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. , 1980, The Journal of pediatrics.