Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann–Pick disease type C in a Russian patient: a case report

Author:

Degtyareva A. V.,Mikhailova S. V.,Zakharova E. Y.,Tumanova E. L.,Puchkova A. A.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Reference5 articles.

1. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.

2. Mikhailova SV, Zakharova E. Niemann-Pick type C disease. Clinical case studies. Pediatr Pharmacol. 2010;7:48–53.

3. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106:330–44.

4. Kelly DA, Portmann B, Mowat AP, Sherlock S, Lake BD. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr. 1993;123:242–7.

5. Pineda M, Mengel E, Héron B, van der Linden V, Imrie J, Jones SA, Lourenço C, Jahnová H, Jesina P, Karimzadeh P. A Niemann-Pick disease Type C Suspicion Index tool to aid diagnosis in paediatric patients. J Inherit Metab Dis. 2014;37 Suppl 1:S140.

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