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isoprene/groznica

Veza se sprema u međuspremnik
ČlanciKlinička ispitivanjaPatenti
4 rezultatima

African swine fever virus trans-prenyltransferase.

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Prijava Registriraj se
The present study describes the characterization of an African swine fever virus gene homologous to prenyltransferases. The gene, designated B318L, is located within the EcoRI B fragment in the central region of the virus genome, and encodes a polypeptide with a predicted molecular weight of 35,904.

Perinatal onset mevalonate kinase deficiency.

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Prijava Registriraj se
Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

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Prijava Registriraj se
OBJECTIVE Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of mevalonic aciduria, the

Allogeneic bone marrow transplantation in mevalonic aciduria.

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Prijava Registriraj se
Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, ataxia, and dysmorphic features. This autosomal recessive disease is caused by a mutation in the mevalonate kinase gene that severely reduces
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