Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency. [electronic resource]
Producer: 20081014Description: 119-24 p. digitalISSN:- 0001-6322
- Adolescent
- Age of Onset
- Aminopeptidases
- Brain -- pathology
- Child
- Child, Preschool
- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
- Disease Progression
- Endopeptidases -- genetics
- Humans
- Inclusion Bodies -- metabolism
- Male
- Mitochondrial Proton-Translocating ATPases -- metabolism
- Neuronal Ceroid-Lipofuscinoses -- genetics
- Neurons -- pathology
- Serine Proteases
- Tripeptidyl-Peptidase 1
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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