Studies in Inherited Metabolic Disease de R.J. Pollitt

Studies in Inherited Metabolic Disease: Lipoproteins Ethical Issues

R.J. Pollitt

R. Angus Harkness

G.M. Addison

en Limba Engleză Paperback – 20 apr 2014

captured for the published proceedings. Nevertheless, the two Supplements to this Journal (also available together as a hard-backed book) do, over the years, embrace many of the major aspects of the study of inborn errors of metabolism and can, particularly with the Short Communications section, be used as a way into the literature on specific new topics. We hope that with judicious selection of material these supplements will continue to provide, as did the Society's earlier annual publications, a balanced record of the present state of the subject in all its facets, a record of interest to those working in allied fields as well as to the specialist. R. J. Pollitt G. M. Addison R. A. Harkness The papers listed below were also presented at the meeting. Scripts were not available by the time of publication. 1. Tangier disease and related disorders of apolipoprotein Al. G. Assmann, Munster. 2. Contribution to Ethics Symposium by M. E. Pembrey, London.

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Cuprins

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.