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Article
Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy
A 28-year-old woman with a 4 year history of slowly progressing ‘frontal dementia’ was diagnosed as having adult metachromatic leukodystrophy and was followed for 4 years after bone marrow transplantation (BMT...
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Article
Compromised fatty acid oxidation in mitochondrial disorders
Measurement of palmitate oxidation by the tritium release method in cultured fibroblasts or in lymphocytes detects patients with mitochondrial β-oxidation disorders and in addition many patients with dysfuncti...
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Article
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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Article
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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Article
Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency
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Article
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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Article
Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes
We examined whether the degree of residual activity from the mutant phenylalanine hydroxylase (PAH) allele affected phenylalanine metabolism in heterozygotes for phenylketonuria (PKU) or non-PKU hyperphenylala...
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Article
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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Article
5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome
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Article
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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Article
N-acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leukodystrophy
We describe a male infant with psychomotor retardation and leukodystrophy who excretes large quantities ofN-acetylaspartate in his urine. A high CSF/plasma concentration ratio ofN-acetylaspartate indicates that t...
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Article
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...
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Article
Clinical and biochemical effects of citalopram, a selective 5-HT reuptake inhibitor — a dose-response study in depressed patients
Citalopram is a bicyclic phtalane derivative. In animal experiments, citalopram has been demonstrated to possess a potent and highly selective inhibitory effect on serotonin reuptake. Several studies in man ha...
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Article
Increased levels of amino acids in human lumbar and central cerebrospinal fluid after subarachnoid haemorrhage
Twenty amino acids were determined chromatographically in cerebrospinal fluid (CSF) from 26 patients and in plasma from 13 of the patients with subarachnoid haemorrhage (SAH). In the first group of 13 patients...
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Chapter and Conference Paper
Symposium: Substratumsatz menschlicher Gewebe bei normalem und gestörtem Stoffwechsel
Der Substratstoffwechsel von Organen kann grundsätzlich auf zweierlei Weise studiert werden: Einmal mit Hilfe der Kathetertechnik und andererseits mit Hilfe der Isotopentechnik. Bei der Kathetertechnik wird die K...
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Article
Ketotic hypoglycemia-a clinical trial of several unifying ethiological hypotheses: 14
After the informed consent by parents and children we have studied 15 children referred to our clinic because of suspected ketotic hypoglycemia. The patients were investigated according to a program designed t...
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Article
Physical exercise and fuel homeostasis in diabetes mellitus
During the initial phase of physical exercise muscle glycogen is the primary source of fuel for contracting muscle in normal man. When exercise continues beyond the first 5–10 min blood glucose and free fatty ...
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Chapter
Splanchnic and Leg Metabolism of Glucose, Free Fatty Acids and Amino Acids during Prolonged Exercise in Man
Studies in recent years have demonstrated an important role for glucose in the supply of oxidizable substrate to exercising skeletal muscle in man. Glucose uptake by muscle rises 20–35 fold above the basal lev...
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Chapter
Metabolism of Free Fatty Acids and Ketone Bodies in Skeletal Muscle
Evaluation of the free fatty acid (FFA) metabolism in skeletal muscle at rest and during exercise has been rendered difficult by the finding of simultaneous release and uptake of FFA from muscle tissue (6, 14)...
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Article
Fourth meeting of the Scandinavian Society for the Study of Diabetes Stockholm, February 1–3, 1968 Abstracts
