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

Lignende værker

• The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
  af: Poupětová, Helena, et al.
  Udgivet: (2010)
• Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein
  af: Vazna, Alzbeta, et al.
  Udgivet: (2009)
• Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency
  af: Elleder, Milan, et al.
  Udgivet: (2008)
• Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
  af: Musalkova, Dita, et al.
  Udgivet: (2020)
• A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
  af: Pineda, Mercedes, et al.
  Udgivet: (2016)