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Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease
British Library Online Contents | 2006| -
Whole Body L-Leucine Oxidation in Patients with Variant Form of Maple Syrup Urine Disease
British Library Online Contents | 2001| -
Whole Body Branched-Chain L-Amino Acid Oxidation in Overnight Fasted Human Subjects
National licenceTaylor & Francis Verlag | 1998| -
Lithium for treatment of neutropenia in glycogen storage disease type Ib
National licenceElsevier | 1986| -
Formation of L-Alloisoleucine In Vivo: An L-[^1^3C]Isoleucine Study in Man
British Library Online Contents | 2000| -
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation
British Library Online Contents | 2000| -
Evaluation of prenatal treatment in newborns with cobalamin-responsive methylmalonic acidaemia
British Library Online Contents | 1995| -
Significance of L-Alloisoleucine in Plasma for Diagnosis of Maple Syrup, Urine Disease
British Library Online Contents | 1999| -
Renal clearance of branched chain L-amino and 2-oxo acids in maple syrup urine disease
British Library Online Contents | 1999| -
Novel mutations in patients with fructose-1,6-bisphosphatase deficiency
British Library Online Contents | 1999| -
Simultaneous determination of betaine and N,N-dimethylglycine in urine
British Library Online Contents | 1994| -
Deficient alpha-galactosidase A activity in plasma but no Fabry disease - a pitfall in diagnosis
British Library Online Contents | 2005|
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