Caricamento...

Niemann-Pick disease type C or Gaucher’s disease type 3? A clinical conundrum

We describe a patient who presented with a neurovisceral syndrome characterised by ataxia, bulbar dysfunction, supranuclear gaze palsy, splenomegaly and foamy histiocytes in the bone marrow. This presentation was suggestive of a lysosomal storage disorder such as Niemann-Pick disease type C or Gauch...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Pandi, Suresh, Chandran, Vijay, Deshpande, Anirudda, Kurien, Annamma
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2014
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4024964/
https://ncbi.nlm.nih.gov/pubmed/24811560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2014-203713
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !