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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F09%3A4028%21RIV10-MSM-11110___
rdf:type
n8:Vysledek skos:Concept
dcterms:description
Acute intermittent porphyria is an autosomal dominantly inherited disorder, classified as acute hepatic porphyria, caused by a deficiency of hydroxymethylbilane synthase (EC 2.5.1.61, EC 4.3.1.8, also known as porphobilinogen deaminase, uroporphyrinogen I synthase), the third enzyme in heme biosynthesis. Clinical features include autonomous, central, motor or sensory symptoms, but the most common clinical presentation is abdominal pain caused by neurovisceral crises. A diagnosis of acute intermittent porphyria is crucial to prevent life-threatening acute attacks. Detection of DNA variations by molecular techniques allows a diagnosis of acute intermittent porphyria in situations where the measurement of porphyrins and precursors in urine and faeces and erythrocyte hydroxymethylbilane synthase activity is inconclusive. Acute intermittent porphyria is an autosomal dominantly inherited disorder, classified as acute hepatic porphyria, caused by a deficiency of hydroxymethylbilane synthase (EC 2.5.1.61, EC 4.3.1.8, also known as porphobilinogen deaminase, uroporphyrinogen I synthase), the third enzyme in heme biosynthesis. Clinical features include autonomous, central, motor or sensory symptoms, but the most common clinical presentation is abdominal pain caused by neurovisceral crises. A diagnosis of acute intermittent porphyria is crucial to prevent life-threatening acute attacks. Detection of DNA variations by molecular techniques allows a diagnosis of acute intermittent porphyria in situations where the measurement of porphyrins and precursors in urine and faeces and erythrocyte hydroxymethylbilane synthase activity is inconclusive.
dcterms:title
Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
skos:prefLabel
Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
skos:notation
RIV/00216208:11110/09:4028!RIV10-MSM-11110___
n3:aktivita
n14:S n14:P n14:Z
n3:aktivity
P(1M0520), S, Z(MSM0021620806)
n3:cisloPeriodika
7
n3:dodaniDat
n5:2010
n3:domaciTvurceVysledku
n9:4554604 n9:4688678
n3:druhVysledku
n15:J
n3:duvernostUdaju
n17:S
n3:entitaPredkladatele
n6:predkladatel
n3:idSjednocenehoVysledku
301880
n3:idVysledku
RIV/00216208:11110/09:4028
n3:jazykVysledku
n10:eng
n3:klicovaSlova
acute intermittent porphyria; heme; hydroxymethylbilane synthase; porphobilinogen deaminase; porphyria; porphobilinogen deaminase gene; uroporphyrinogen-i synthase; human-erythrocytes; point mutation; identification; expression; sequence; polymorphisms; purification; pathogenesis
n3:klicoveSlovo
n4:point%20mutation n4:polymorphisms n4:uroporphyrinogen-i%20synthase n4:human-erythrocytes n4:heme n4:porphobilinogen%20deaminase n4:porphobilinogen%20deaminase%20gene n4:pathogenesis n4:sequence n4:expression n4:acute%20intermittent%20porphyria n4:porphyria n4:purification n4:hydroxymethylbilane%20synthase n4:identification
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[A6F65714D154]
n3:nazevZdroje
FEBS Journal
n3:obor
n19:CE
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
4
n3:projekt
n18:1M0520
n3:rokUplatneniVysledku
n5:2009
n3:svazekPeriodika
276
n3:tvurceVysledku
Ulbrichová, Dana Hrdinka, M. Saudek, V. Martásek, Pavel
n3:wos
000264021900027
n3:zamer
n16:MSM0021620806
s:issn
1742-464X
s:numberOfPages
10
n13:organizacniJednotka
11110