Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F07%3A1536" target="_blank" >RIV/00064203:_____/07:1536 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/07:1536
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
Original language description
Niemann-Pick disease (NPD), an autosomal recessive disorder resulting from mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is subdivided into the acute, lethal neuronopathic type A, and the chronic visceral type B, explained by the diffe
Czech name
Velmi variabilní neurální postižení u Nieman-Pickovy nemoci, sfingomyelinása negativní v důsledku staré romské mutace.
Czech description
Variabilita neurálního fenotypu Niemann-Pickovy choroby v důsledku zakladatelské romské mutace.

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Project
<a href="/en/project/NR8330" target="_blank" >NR8330: Lamin A/C gene (LMNA) analysis in patients and families with autosomal recessive, axonal type of inherited neuropathy Charcot-Marie-Tooth (AR CMT2).</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2007
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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