Published in J Chromatogr B Analyt Technol Biomed Life Sci on March 05, 2004
Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. FASEB J (2003) 1.59
Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. J Pediatr (2002) 1.50
Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes (2008) 1.45
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics (2006) 1.38
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr (2003) 1.33
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 1.33
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab (2007) 1.28
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany. Orphanet J Rare Dis (2011) 1.14
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain (2008) 1.13
Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. Orphanet J Rare Dis (2012) 1.10
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med (2010) 1.09
Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatr Res (2005) 1.05
Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1. Eur J Pediatr (2002) 1.02
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr (2002) 1.02
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res (2005) 1.01
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. Hum Mutat (2003) 1.00
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A (2008) 0.93
Longitudinal assessment of intellectual achievement in patients with classical galactosemia. Pediatrics (2010) 0.91
Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia. J Proteome Res (2011) 0.89
Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria. Br J Clin Pharmacol (2003) 0.88
A woman with untreated galactosaemia. Lancet (2003) 0.85
Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany. Turk J Pediatr (2005) 0.84
Deficient alpha-galactosidase A activity in plasma but no Fabry disease--a pitfall in diagnosis. Clin Chem Lab Med (2005) 0.84
The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial. J Pediatr (2003) 0.84
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency. Metabolism (2004) 0.83
Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol Genet Metab (2004) 0.81
Molecular genetics of maple syrup urine disease in the Turkish population. Turk J Pediatr (2009) 0.81
Implications for hyperhomocysteinemia: not homocysteine but its oxidized forms strongly inhibit neuronal network activity. J Neurol Sci (2004) 0.80
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochim Biophys Acta (2011) 0.80
[Situation of adult patients with inborn errors of metabolism. A survey in Germany]. Med Klin (Munich) (2005) 0.80
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency. Arch Physiol Biochem (2014) 0.79
Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence. Eur J Pediatr (2002) 0.79
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. J Inherit Metab Dis (2011) 0.78
Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature. Eur J Pediatr (2008) 0.78
Cystic renal dysplasia as a leading sign of inherited metabolic disease. Pediatr Nephrol (2007) 0.78
Disturbance of cultured rat neuronal network activity depends on concentration and ratio of leucine and alpha-ketoisocaproate: implication for acute encephalopathy of maple syrup urine disease. Pediatr Res (2003) 0.77
Glycogen storage disease type Ib without hypoglycemia. Mol Genet Metab (2006) 0.77
[Inborn errors of metabolism (IEM) in adults. A new challenge to internal medicine]. Med Klin (Munich) (2005) 0.75
Stable-isotope dilution analysis of galactose metabolites in human erythrocytes. Rapid Commun Mass Spectrom (2003) 0.75
Urinary excretion of pentose phosphate pathway-associated polyols in early postnatal life. Neonatology (2008) 0.75
Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine. Eur J Pediatr (2003) 0.75
[Inborn errors of metabolism (IEM) in adults. A new challenge to internal medicine (Part 2)]. Med Klin (Munich) (2005) 0.75
Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms. Clin Chem (2008) 0.75
Acute rheumatic fever in a patient with glycogen storage disease type Ib: causal or coincidental simultaneous occurrence? Eur J Pediatr (2002) 0.75