Studies in Inherited Metabolic Disease

The Biochemistry of Lipoproteins.- The Biochemistry of Lipoproteins.- Clinical Consequences of Hyperlipidaemia.- Clinical Consequences of Hyperlipidaemia.- Lipase Deficiencies.- Lipase Deficiencies.- The Use of Recombinant DNA Techniques for the Diagnosis of Familial Hypercholesterolaemia.- The Use of Recombinant DNA Techniques for the Diagnosis of Familial Hypercholesterolaemia.- Familial LCAT Deficiency and Fish-Eye Disease.- Familial LCAT Deficiency and Fish-Eye Disease.- Biochemical, Clinical, Genetic and Metabolic Studies of Hyperapo-?-lipoproteinaemia.- Biochemical, Clinical, Genetic and Metabolic Studies of Hyperapo-?-lipoproteinaemia.- Apolipoprotein Polymorphism and Multifactorial Hyperlipidaemia.- Apolipoprotein Polymorphism and Multifactorial Hyperlipidaemia.- A Neonatal Screening Approach to the Detection of Familial Hypercholesterolaemia and Family-based Coronary Prevention.- A Neonatal Screening Approach to the Detection of Familial Hypercholesterolaemia and Family-based Coronary Prevention.- The Paediatric Lipid Clinic in Birmingham.- The Paediatric Lipid Clinic in Birmingham.- Recent Advances in Cystic Fibrosis.- Recent Advances in Cystic Fibrosis.- Symposium — The Ethics of Antenatal Diagnosis and the Termination of Pregnancy.- Antenatal Diagnosis and the Termination of Pregnancy — What the Churches have to Say.- Ethics and Clinical Practice.- Preface to Short Communications.- An Erroneous Apolipoprotein E-3 Band in High Density Lipoprotein Fractions.- Histochemical Abnormalities in Liver and Jejunal Biopsies from a Case of Cholesterol Ester Storage Disease.- Cholesteryl Ester Storage Disease: Risk Factors for Atherosclerosis in a 15-Year-Old Boy.- Cholesteryl Ester Storage Disease with Secondary Lecithin Cholesterol Acyl Transferase Deficiency.-A Treatable Familial Neuromyopathy with Vitamin E Deficiency, Normal Absorption, and Evidence of Increased Consumption of Vitamin E.- Fat Malabsorption, Vitamin E Deficiency, Scoliosis and Cataracts.- Familial High-Density Lipoprotein Deficiency (Tangier Disease): The Third Italian Case.- Failure of Taurine to Improve Fat Absorption in Cystic Fibrosis.- Peroxisomes and Peroxisomal Functions in Hyperpipecolic Acidaemia.- Bile Acid Analyses in “Pseudo-Zellweger” Syndrome; Clues to the Defect in Peroxisomal ?-Oxidation.- Adrenomyeloneurodystrophy with Late Cerebral Involvement and Evidence of a Multiple Autoimmune Disorder.- X-Linked Adrenoleukodystrophy: Identification of the Primary Defect at the Level of a Deficient Peroxisomal Very Long Chain Fatty Acyl-CoA Synthetase Using a Newly Developed Method for the Isolation of Peroxisomes from Skin Fibroblasts.- Infanto-Juvenile Encephaloneuropathy and Pigmentary Retinopathy in a Girl Associated with Congenital Adrenal Insufficiency and Altered Plasma Medium-Chain Fatty Acid Levels.- Familial Hypoketotic Hypoglycaemia Associated with Peripheral Neuropathy, Pigmentary Retinopathy and C6–C14 Hydroxydicarboxylic Aciduria. A New Defect in Fatty Acid Oxidation?.- A New Type of Mitochondrial Encephalomyopathy with Stroke-like Episodes due to Cytochrome Oxidase Deficiency.- Cytochrome c Oxidase Deficiency in Three Patients with Leigh’s Disease.- Histochemical, Ultrastructural and Biochemical Study of Muscle Mitochondria in Leber’s Hereditary Optic Atrophy.- Morphometric and Biochemical Study of Muscle Mitochondria in Adult Chronic Progressive External Ophthalmoplegia.- Cytochrome c Oxidase: Organ-Specific Isoenzymes and Deficiencies.- Enzymatic Heterogeneity in Primary Hyperoxaluria Type 1 (Hepatic Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency).- Diversity in Residual Alanine Glyoxylate Aminotransferase Activity in Hyperoxaluria Type I: Correlation with Pyridoxine Responsiveness.- The Subcellular Metabolism of Glyoxylate in Primary Hyperoxaluria Type 1: The Relationship Between Glycine Production and Oxalate Overproduction.- Primary Hyperoxaluria and L-Glyceric Aciduria in the Cat.- Clinical Effects of Serine Medication in Non-ketotic Hyperglycinaemia Due to Deficiency of P-Protein of the Glycine Cleavage Complex.- The Use of Phenylpropionic Acid as a Loading Test for Medium-Chain Acyl-CoA Dehydrogenase Deficiency.- Odd-Numbered Long-Chain Fatty Acid Contents in Erythrocyte Membrane Phospholipids in Patients with an Impaired Propionate Utilization.- Mevalonic Aciduria: Pathobiochemical Effects of Mevalonate Kinase Deficiency on Cholesterol Metabolism in Intact Fibroblasts.- A Patient with Mevalonic Aciduria Presenting with Hepatosplenomegaly, Congenital Anaemia, Thrombocytopenia and Leukocytosis.- A Closer Look at the Eye in Homocystinuria: A Screened Population.- Peptiduria Presumably Caused by Aminopeptidase-P Deficiency. A New Inborn Error of Metabolism.- Early Morning Urine Galactitol Levels in Relation to Galactose Intake: A Possible Method of Monitoring the Diet in Galactokinase Deficiency.- Cataracts in Children with Classical Galactosaemia and in their Parents.- A Patient with Severe Type of Epimerase Deficiency Galactosaemia.- Branching Enzyme in Erythrocytes. Detection of Type IV Glycogenosis Homozygotes and Heterozygotes.- ?-Mannosidosis in Two Brothers with Hearing Loss.- Infantile Sialic Acid Storage Disease in Two Siblings.- Evaluation of Lysosomal Enzymes in Uncultured and Cultured Chorionic Villi and Amniocytes.