• Publications
  • Influence
Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients.
The age dependence of endogenous galactose formation was investigated in Q188R homozygous galactosemic patients (n=18; 4-38 years) using the primed continuous infusion approach withExpand
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency
Abstract Patients with classical galactosaemia (galactose-1-phosphate uridyltransferase (GALT) deficiency) manifest clinical complications despite strict dietary galactose restriction. Therefore theExpand
Longitudinal Assessment of Intellectual Achievement in Patients With Classical Galactosemia
OBJECTIVE: To conduct a longitudinal assessment of long-term cognitive outcome in patients with classical galactosemia. METHODS: Inclusion criteria were (1) previous assessment of IQ dating back >10Expand
Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease.
BACKGROUND The significance of plasma L-alloisoleucine, which is derived from L-isoleucine in vivo, for diagnosis of maple syrup urine disease (MSUD) was examined. METHODS Branched-chain L-aminoExpand
Formation of L-Alloisoleucine In Vivo : An L-[13C]Isoleucine Study in Man
L-Alloisoleucine (2 S, 3 R), a diastereomer of L-isoleucine (2 S, 3 S), is a normal constituent of human plasma. Considerable amounts accumulate in maple syrup urine disease, in which theExpand
Whole-Body l-Leucine Oxidation in Patients with Variant Form of Maple Syrup Urine Disease
Whole-body l-leucine oxidation was assessed in patients with maple syrup urine disease of different severity using oral l-[1-13C]leucine bolus tests (38 μmol/kg body weight). Residual whole-bodyExpand
Transamination and Oxidative Decarboxylation Rates of Branched-Chain 2-Oxo Acids in Cultured Human Skin Fibroblasts
ABSTRACT. Transamination and oxidative decarboxylation of branched-chain L-amino acid derived 2-oxo acids in cultured human skin fibroblasts from normal subjects and from a patient with maple syrupExpand
Analysis of concentration and (13)C enrichment of D-galactose in human plasma.
BACKGROUND A stable-isotope dilution method for the sensitive determination of D-galactose in human plasma was established. METHODS D-[(13)C]Galactose was added to plasma, and the concentration wasExpand
Enzymatic-chemical preparation of quinoxaline derivatives from L-amino acids for gas chromatographic-mass spectrometric analyses.
We report on an enzymatic-chemical method for the specific preparation of L-amino acid-derived quinoxalinols suitable for the sensitive estimation of 13C- or 2H-label enrichment by gasExpand
Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects
The age dependence of galactose and galactitol excretion was assessed in overnight-fasted galactose-1-phosphate uridyltransferase-deficient patients under dietary treatment (ages 4–34 years; n=51),Expand