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Deficient alpha-galactosidase A activity in plasma but no Fabry disease - a pitfall in diagnosis
British Library Online Contents | 2005| -
[^1^3C]Amino Acid Bolus Tests in Human Subjects: Model Independent Evaluation of in vivo Oxidation Rates
British Library Online Contents | 1998| -
Phenotypic and genotypic characterization of patients with classical galactosaemia
British Library Online Contents | 1999| -
Whole body leucine oxidation (WBLO) in patients with classical and variant form of maple syrup urine disease (MSUD)
British Library Online Contents | 1999| -
Decreased neuronal network activity by leucine and -ketoisocaproate in maple syrup urine disease (MSUD)
British Library Online Contents | 1999| -
Pharmacokinetics of betaine in healthy subjects and children with methylenetetrahydrofolate deficiency
British Library Online Contents | 1999| -
Renal clearance of branched-chain L-amino and 2-oxo acids in patients with classical form of maple syrup urine disease
British Library Online Contents | 1997| -
Diurnal changes of plasma amino acids in maple syrup urine disease
British Library Online Contents | 1997| -
Diurnal changes in plasma amino acids in maple syrup urine disease
British Library Online Contents | 1998| -
Novel mutations causing fructose-1,6-bisphosphatase deficiency
British Library Online Contents | 1998| -
Acute Neuronopathic Gaucher Disease Complicated by Fatal Gastrointestinal Bleeding
Thieme Verlag | 2006| -
FIRST-TRIMESTER (CHORION BIOPSY) DIAGNOSIS OF CITRULLINAEMIA AND METHYLMALONICACIDURIA
National licenceElsevier | 1984|
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