VOLNÝ, Ondřej, Helena JAHNOVÁ a Martin BAREŠ. Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C. Basal Ganglia. Munich: Elsevier GmbH, 2016, roč. 6, č. 3, s. 121-122. ISSN 2210-5336. Dostupné z: 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 a Martin BAREŠ. Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C. \textit{Basal Ganglia}. Munich: Elsevier GmbH, 2016, roč.~6, č.~3, s.~121-122. ISSN~2210-5336. Dostupné z: https://dx.doi.org/10.1016/j.baga.2016.02.003.
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