11 Result(s)
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Article
U. von Döbeln
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Article
Erratum to: Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast
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Article
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast
Children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) have a defect in the degradation of long-chain fatty acids and are at risk of hypoketotic hypoglycemia and insufficient energy produc...
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Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W
A 31-year old patient who is compound heterozygous for the two galactose-1-phosphate uridyltransferase mutations p.Q188R and p.R333W delivered two healthy boys after uneventful spontaneous pregnancies. The pat...
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Increased lipolysis in LCHAD deficiency
An increasing number of fatty acid oxidation defects are being detected owing to diagnostic improvements and a greater awareness among clinicians. The metabolic block leads to energy disruption, fatty infiltra...
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8 Neonatal Hyperammonemia Successfully Treated with Carbaglu® in a Neonate with N-Acetyl-Glutamate Syntase Deficiency
Background: Neonatal hyperammonemia is often a sign of a severe urea cycle disorder with fatal outcome. With the introduction of Carbaglu® a new treatment option is available for neonatal hyperammonemia due to N-...
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Fatty acid oxidation in fibroblasts from patients with defects in β-oxidation and in the respiratory chain
Fatty acid oxidation has been studied with the tritium release assay in cultured fibroblasts from patients with defects in β-oxidation and in the mitochondrial respiratory chain. Cells from all patients with β...
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Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency
Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by analysis of the enzyme activity in a chorionic villus biopsy obtained in the 10th week of pregnancy. The diagnosis w...
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Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients
Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are caused mostly by an inherited (autosomal recessive) deficiency in hepatic phenylalanine hydroxylase (PAH) activity. More than 50 PAH mutations have ben...
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Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samples
Five patients with 3-hydroxydicarboxylic aciduria have been investigated. Two of them had elder siblings who had died unexpectedly in early infancy. Stored filter paper blood samples obtained from the patients...
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NEONATAL SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA (CAH) USING 17-HYDROXYPROGESTERONE (17-OHP) ASSAYS OF DRIED BLOOD SPOTS
Dried blood on filter paper collected on the 5th day of life was used to screen infants for CAH. A radioimmunoassay for 17-OHP without extraction with organic solvents was developed. The cut-off level was init...
