Inborn Errors of Metabolism in Humans : Monograph Based Upon Proceedings of the International Symposium Held in Interlaken, Switzerland, September 2–5, 1980

Front Matter....Pages i-xv Front Matter....Pages 1-1 Molecular aspects of genetic heterogeneity....Pages 3-11 Inborn errors of purine metabolism....Pages 13-36 Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia....Pages 37-52 Homocystinuria: clinical and biochemical heterogeneity....Pages 53-67 Hereditary defects of steroid biosynthesis....Pages 69-86 Blood—brain barrier amino-acid transport: clinical implications....Pages 87-99 Front Matter....Pages 101-101 Recent studies on the maturation of lysosomal enzymes....Pages 103-110 Enzyme substitution by fibroblast transplantation....Pages 111-129 Artificial cell-encapsulated enzymes and adsorbents in congenital metabolic disorders....Pages 131-138 Prospects for enzyme replacement therapy in heritable metabolic disorders....Pages 139-154 Front Matter....Pages 155-155 Inborn errors of metabolism affecting brain development — Introduction....Pages 157-160 Mutations in mice affecting brain development and their correlations with human diseases....Pages 161-171 Murine mutations affecting myelination: models to study myelin diseases in the human....Pages 173-192 The effect of phenylalanine on myelin metabolism in adolescent rats....Pages 193-199 Abnormal oligodendrocyte differentiation in a mouse mutant with defect in myelination....Pages 201-208 Front Matter....Pages 209-209 Inborn errors of metabolism — consequences of long-term treatment for the individual, as derived from observations in phenylketonuria....Pages 211-223 Social aspects of the handicapped person....Pages 225-236 Psychological and educational aspects of handicap....Pages 237-253 Repercussions of screening....Pages 255-265 Some principles in the management of inherited metabolic disease....Pages 267-285 Back Matter....Pages 287-296