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Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS1). Deficiency of ASS1 shows various clinicalExpand
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Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
Twenty-three patients with late onset argininosuccinate lyase deficiency (ASLD) were identified during a 27-year period of newborn screening in Austria (1:95,600, 95% CI=1:68,036-1:162,531). OneExpand
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2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
2-Methylbutyryl-CoA dehydrogenase (MBD; coded by the ACADSB gene) catalyzes the step in isoleucine metabolism that corresponds to the isovaleryl-CoA dehydrogenase reaction in the degradation ofExpand
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Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
BACKGROUND Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea metabolism that can lead to hyperammonemic crises and orotic aciduria. To date, a total of 341 causativeExpand
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Morphological defences of invasive Daphnia lumholtzi protect against vertebrate and invertebrate predators
Daphnia lumholtzi invaded North American lakes and reservoirs. It forms prominent spines, which are inducible by fish kairomones. We tested the two hypotheses that the long spines protect againstExpand
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Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
Deficiency of the urea cycle enzyme carbamylphosphate synthetase 1 (CPS1) causes hyperammonemia with a vast range of clinical severity from neonatal onset with early lethality to onset after age 40Expand
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Integrating biological invasions, climate change and phenotypic plasticity
Invasive species frequently change the ecosystems where they are introduced, e.g., by affecting species interactions and population densities of native species. We outline the connectedness ofExpand
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Reconstruction of Monteggia-like proximal ulna fractures using different fixation devices: A biomechanical study.
BACKGROUND Comminuted proximal ulna fractures are rare and reconstruction of these fractures is discussed controversially. The aim of this study was to test three currently available plate devices inExpand
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Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria
BackgroundThe urea cycle defect argininosuccinate lyase (ASL) deficiency has a large spectrum of presentations from highly severe to asymptomatic. Enzyme activity assays in red blood cells orExpand
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Three-generational alkaptonuria in a non-consanguineous family
SummaryObjective:Alkaptonuria (AKU) is a rare inborn error of metabolism of aromatic amino acids and considered to be an autosomal recessive trait caused by mutations in the homogentisateExpand
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