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-Reference-Cited by-同舟云学术

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

Published:2014-09-19 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Jahnova Helena,Dvorakova Lenka,Vlaskova Hana,Hulkova Helena,Poupetova Helena,Hrebicek Martin,Jesina Pavel

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0140-6.pdf

Reference42 articles.

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2. Vanier MT: Niemann-Pick disease type C. Orphanet J Rare Dis. 2010, 5: 16-10.1186/1750-1172-5-16.

3. Walterfang M, Chien YH, Imrie J, Rushton D, Schubiger D, Patterson MC: Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis. 2012, 7: 76-10.1186/1750-1172-7-76.

4. Poupetova H, Ledvinova J, Berna L, Dvorakova L, Kozich V, Elleder M: The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis. 2010, 33: 387-396. 10.1007/s10545-010-9093-7.

5. Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcao A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sa Miranda MC, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sa Miranda MC: Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004, 12: 87-92. 10.1038/sj.ejhg.5201044.

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