Cargando…
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency
This is the first neuropathology report of a male patient (born 1960–died 1975) with an extremely rare, atypical variant of CLN2 that has been diagnosed only in five families so far. The clinical history started during his preschool years with relatively mild motor and psychological difficulties, bu...
Autores principales: | Elleder, Milan, Dvořáková, Lenka, Stolnaja, Larisa, Vlášková, Hana, Hůlková, Helena, Druga, Rastislav, Poupětová, Helena, Košťálová, Eva, Mikuláštík, Josef |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2956886/ https://www.ncbi.nlm.nih.gov/pubmed/18283468 http://dx.doi.org/10.1007/s00401-008-0349-3 |
Ejemplares similares
-
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years
por: Jahnova, Helena, et al.
Publicado: (2014) -
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein
por: Vazna, Alzbeta, et al.
Publicado: (2009) -
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
por: Poupětová, Helena, et al.
Publicado: (2010) -
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
por: Hůlková, Helena, et al.
Publicado: (2010) -
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
por: Musalkova, Dita, et al.
Publicado: (2020)