About: Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.     Goto   Sponge   Distinct   Permalink

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Description
  • Fumarase deficiency, psychomotor retardation, succinylaminoimidazole carboxamide riboside, succinyladenosine, succinylpurines, cerebrospinal fluid.The report described presence of succinylaminoimidazole carboxamide riboside (SAICAR)in the cerebrospinal fluid of a patient with deficiency of fumarase.The neurotoxic metabolite increase is caused by secondary inhibition of adenylosuccinate lyase by accumulating fumarate and its presence may be seen as a casuse of neurological impairment.
  • Fumarase deficiency, psychomotor retardation, succinylaminoimidazole carboxamide riboside, succinyladenosine, succinylpurines, cerebrospinal fluid.The report described presence of succinylaminoimidazole carboxamide riboside (SAICAR)in the cerebrospinal fluid of a patient with deficiency of fumarase.The neurotoxic metabolite increase is caused by secondary inhibition of adenylosuccinate lyase by accumulating fumarate and its presence may be seen as a casuse of neurological impairment. (en)
Title
  • Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.
  • Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment. (en)
skos:prefLabel
  • Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.
  • Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment. (en)
skos:notation
  • RIV/00216208:11110/00:00002532!RIV/2001/MSM/111101/N
http://linked.open.../vavai/riv/strany
  • 371
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(GA302/99/0648), P(VS96127)
http://linked.open...iv/cisloPeriodika
  • 23
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
  • Krijt, Jakub
  • Kmoch, Stanislav
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 726344
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11110/00:00002532
http://linked.open...riv/jazykVysledku
http://linked.open...odStatuVydavatele
  • NL - Nizozemsko
http://linked.open...ontrolniKodProRIV
  • [16B4780A0B31]
http://linked.open...i/riv/nazevZdroje
  • Journal of Inherited Metabolic Diseases
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 23
http://linked.open...iv/tvurceVysledku
  • Krijt, Jakub
  • Houštěk, Josef
  • Zeman, Jiří
  • Kmoch, Stanislav
  • Wenchich, L.
  • Hansíková, Hana
  • Chrastina, P.
  • Stratilová, Leona
issn
  • 0141-8955
number of pages
http://localhost/t...ganizacniJednotka
  • 11110
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