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Strukturierte Aufklärung und Beratung bei monogen vererbten Stoffwechselkrankheiten
British Library Online Contents | 2015| -
Structural white matter changes in adolescents and young adults with maple syrup urine disease
Online Contents | 2013| -
Structural white matter changes in adolescents and young adults with maple syrup urine disease
British Library Online Contents | 2013| -
Differential Glycomics of Epithelial Membrane Glycoproteins from Urinary Exovesicles Reveals Shifts toward Complex-Type N-Glycosylation in Classical Galactosemia
British Library Online Contents | 2012| -
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia
British Library Online Contents | 2011| -
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
British Library Online Contents | 2011| -
Clinical and molecular studies of five patients with succinyl-CoA:3-Ketoacid CoA transferase deficiency
British Library Online Contents | 2010| -
Clinical and molecular studies of five patients with succinyl-CoA:3-Ketoacid CoA transferase deficiency
British Library Conference Proceedings | 2010| -
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test
British Library Online Contents | 2009| -
Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia – and review of the literature
British Library Online Contents | 2009| -
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
British Library Online Contents | 2009| -
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
Online Contents | 2009| -
Maple Syrup Urine Disease: Newborn Screening Fails to Discriminate between Classic and Variant Forms
British Library Online Contents | 2008|
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