The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis. [electronic resource]
Producer: 20030207Description: 161-4 p. digitalISSN:- 1090-3798
- Aminopeptidases
- Brain -- enzymology
- Child
- Child, Preschool
- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
- Electroencephalography
- Endopeptidases -- genetics
- Evoked Potentials -- physiology
- Female
- Homozygote
- Humans
- Magnetic Resonance Imaging
- Male
- Mutation
- Neurologic Examination
- Neuronal Ceroid-Lipofuscinoses -- enzymology
- Russia
- Serine Proteases
- Tripeptidyl-Peptidase 1
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Publication Type: Case Reports; Journal Article
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