Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia
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J. Ward | B. Wolf | C. Freehauf | C. Greene | J. A. Thomas | P. Gordon | Barry Wolf | Janet A. Thomas | Carol L. Greene | Jewell C. Ward
[1] S. Piovan,et al. Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: Effect of biotin supplementation , 1996, Journal of Inherited Metabolic Disease.
[2] F. Gürakan,et al. High biotinidase activity in type Ia glycogen storage disease , 2000, American Journal of Gastroenterology.
[3] B. Wolf,et al. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. , 1983, Clinica chimica acta; international journal of clinical chemistry.
[4] R. Mahler. Glycogen storage diseases , 1969 .