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

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About: Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation Goto Sponge Distinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Variabilita neurálního fenotypu Niemann-Pickovy choroby v důsledku zakladatelské romské mutace. (cs) 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 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 (en)
Title	Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation (en) Velmi variabilní neurální postižení u Nieman-Pickovy nemoci, sfingomyelinása negativní v důsledku staré romské mutace. (cs)
skos:prefLabel	Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation (en) Velmi variabilní neurální postižení u Nieman-Pickovy nemoci, sfingomyelinása negativní v důsledku staré romské mutace. (cs)
skos:notation	RIV/00064203:_____/07:1536!RIV08-MZ0-00064203
http://linked.open.../vavai/riv/strany	1050-1061
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NR8330)
http://linked.open...iv/cisloPeriodika	Part 4
http://linked.open...vai/riv/dodaniDat	2008
http://linked.open...aciTvurceVysledku	Seeman, Pavel
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	424135
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/07:1536
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	intermediate Niemann-Pick disease; neurological manifestations; Gypsy founder mutation; human acid sphingomyelinase; simple mendelian disorders; plasma chitotriosidase; intermediate phenotype; nucleotide-sequence; storage disorders; degradation rate; complex traits; population; prevalence (en)
http://linked.open.../riv/klicoveSlovo	population prevalence storage disorders nucleotide-sequence degradation rate Gypsy founder mutation complex traits human acid sphingomyelinase intermediate Niemann-Pick disease intermediate phenotype neurological manifestations plasma chitotriosidase simple mendelian disorders
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[ADBC6603E809]
http://linked.open...i/riv/nazevZdroje	Brain
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	15 (xsd:int)
http://linked.open...vavai/riv/projekt	Lamin A/C gene (LMNA) analysis in patients and families with autosomal recessive, axonal type of inherited neuropathy Charcot-Marie-Tooth (AR CMT2).
http://linked.open...UplatneniVysledku	2007
http://linked.open...v/svazekPeriodika	130
http://linked.open...iv/tvurceVysledku	Seeman, Pavel
issn	0006-8950
number of pages	12 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

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