Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C

VOLNÝ, Ondřej, Helena JAHNOVÁ and Martin BAREŠ. Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C. Basal Ganglia. Munich: Elsevier GmbH, 2016, vol. 6, No 3, p. 121-122. ISSN 2210-5336. Available from: https://dx.doi.org/10.1016/j.baga.2016.02.003.

Basic information

Original name

Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C

Authors

VOLNÝ, Ondřej (203 Czech Republic, belonging to the institution), Helena JAHNOVÁ (203 Czech Republic) and Martin BAREŠ (203 Czech Republic, guarantor, belonging to the institution)

Edition

Basal Ganglia, Munich, Elsevier GmbH, 2016, 2210-5336

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Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30000 3. Medical and Health Sciences

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

RIV identification code

RIV/00216224:14110/16:00089697

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/j.baga.2016.02.003

UT WoS

000389532300002

Keywords in English

Adult onset; Disease modifying therapy; Miglustat; Niemann-Pick type C

Tags

EL OK

Tags

International impact, Reviewed

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Abstract

V originále

We present a case report of a patient with adult-onset Niemann-Pick disease type C (NPC), emphasizing an interdisciplinary approach to diagnosis and treatment. The patient is a compound heterozygote for two different mutations in the NPC1 gene, described for the first time in a Czech NPC cohort.