| 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. |
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@article{1342357,
author = {Volný, Ondřej and Jahnová, Helena and Bareš, Martin},
article_location = {Munich},
article_number = {3},
doi = {http://dx.doi.org/10.1016/j.baga.2016.02.003},
keywords = {Adult onset; Disease modifying therapy; Miglustat; Niemann-Pick type C},
language = {eng},
issn = {2210-5336},
journal = {Basal Ganglia},
title = {Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C},
volume = {6},
year = {2016}
}
TY - JOUR
ID - 1342357
AU - Volný, Ondřej - Jahnová, Helena - Bareš, Martin
PY - 2016
TI - Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C
JF - Basal Ganglia
VL - 6
IS - 3
SP - 121-122
EP - 121-122
PB - Elsevier GmbH
SN - 22105336
KW - Adult onset
KW - Disease modifying therapy
KW - Miglustat
KW - Niemann-Pick type C
N2 - 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.
ER -
VOLNÝ, Ondřej, Helena JAHNOVÁ and Martin BAREŠ. Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C. \textit{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.
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