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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Infantile spasms as the initial symptom of biotinidase deficiency.

Two patients with biotinidase deficiency had diagnoses of infantile spasms made at 1 month of age. Biotinidase deficiency may be seen early in the neonatal period without the characteristic findings such as alopecia and seborrheic dermatitis. This diagnosis should be considered in patients with infantile spasms.[1]


  1. Infantile spasms as the initial symptom of biotinidase deficiency. Kalayci, O., Coskun, T., Tokatli, A., Demir, E., Erdem, G., Güngör, C., Yükselen, A., Ozalp, I. J. Pediatr. (1994) [Pubmed]
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