Published in Eur J Pediatr on April 01, 1986
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Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. J Pediatr (1993) 1.52
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Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 1.41
Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med (1990) 1.41
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics (1991) 1.41
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis (1993) 1.40
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Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography. Clin Chim Acta (1987) 1.39
Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr (1993) 1.39
[A comparison of 2 new rapid methods for determination of HbA1C concentration in patients with diabetes mellitus]. Ugeskr Laeger (1994) 1.38
[Treatment of ascites in liver cirrhosis]. Ugeskr Laeger (1994) 1.38
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics (1998) 1.37
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol (1991) 1.33
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Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31
Three different methods for the determination of total homocysteine in plasma. Ann Clin Biochem (1995) 1.30
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases. Clin Chim Acta (1983) 1.30
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab (2007) 1.29
In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta (1982) 1.29
4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta (1991) 1.29
Cost effectiveness of adjuvant therapy for hepatocellular carcinoma during the waiting list for liver transplantation. Gut (2002) 1.29
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet (2001) 1.28
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics (2005) 1.27
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid. J Inherit Metab Dis (2007) 1.27
5-Oxoproline as a cause of high anion gap metabolic acidosis: an uncommon cause with common risk factors. Neth J Med (2008) 1.25
Aspects of the natural history of gastrointestinal bleeding in cirrhosis and the effect of prednisone. Gastroenterology (1981) 1.25
Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis. Neurology (2009) 1.25
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Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. J Biol Chem (1995) 1.24
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet (2001) 1.24
Role of HPC2/ELAC2 in hereditary prostate cancer. Cancer Res (2001) 1.24
Use of a prognostic index in evaluation of liver transplantation for primary biliary cirrhosis. Transplantation (1986) 1.24
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology (2009) 1.23
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol (2001) 1.22
Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry. Clin Chem (2000) 1.22
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A (2005) 1.21
Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta (1981) 1.19
Primary biliary cirrhosis: the prevalence of hypothyroidism and its relationship to thyroid autoantibodies and sicca syndrome. Gastroenterology (1980) 1.18
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum Mol Genet (1996) 1.17
Differential distribution of apolipoprotein E isoforms in human plasma lipoproteins. Arteriosclerosis (1989) 1.16
Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis (1998) 1.15
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet (1989) 1.15
Glutaric aciduria type I: pathomechanisms of neurodegeneration. J Inherit Metab Dis (1999) 1.14
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. Mol Genet Metab (2001) 1.14
Increased plasma homocysteine after menopause. Atherosclerosis (2000) 1.14
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res (1996) 1.14
Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab (1998) 1.14
X-linked creatine transporter defect: an overview. J Inherit Metab Dis (2003) 1.12
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res (2000) 1.11
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Ann Neurol (2000) 1.11
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Hum Genet (2001) 1.10
Lactate dehydrogenase isoenzymes in the diagnosis of human benign and malignant brain tumors. J Natl Cancer Inst (1967) 1.10
Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol (1993) 1.10
Glucocorticosteroids are not effective in alcoholic hepatitis. Am J Gastroenterol (1999) 1.09
Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. Pediatr Res (1983) 1.09
Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk. Am J Hum Genet (1992) 1.09
Involution of polycystic kidneys during active treatment of terminal uremia. Acta Med Scand (1975) 1.09
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Neurochem Int (2007) 1.08