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On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias
British Library Online Contents | 1995| -
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease
British Library Online Contents | 2007| -
Leucine Oxidation in vivo: Inter-and Intraindividual Variation in Healthy Subjects as Assessed by Oral L-[1-13C]Leucine Loads
National licenceTaylor & Francis Verlag | 1994| -
L-Alloisoleucine in plasma: the most specific and most sensitive marker for maple syrup urine disease
British Library Online Contents | 1998| -
Simple Method for the Routine Determination of Betaine and N,N-Dimethylglycine in Blood and Urine
British Library Online Contents | 1998| -
Method for Determination of Concentration and ^1^3C Enrichment of D-Galactose in Body Fluids
British Library Online Contents | 1999| -
Zur Behandlungssituation erwachsener Patienten mit angeborenen Stoffwechselkrankheiten
British Library Online Contents | 2005| -
On the Formation of L-Alloisoleucine in vivo: Transfer of ^1^3C-Label into Alloisoleucine Metabolites After Administration of L-[1-^1^3C]Isoleucine
British Library Online Contents | 1998| -
Liver transplantation in classical maple syrup urine disease: near normalization of branch-chain L-amino acid metabolism
British Library Online Contents | 1998| -
Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect
British Library Online Contents | 1997| -
Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease
British Library Online Contents | 2006| -
Simultaneous determination of betaine and N,N-dimethylglycine in urine
British Library Online Contents | 1994| -
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test
British Library Online Contents | 2009|
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