Inborn Errors of Metabolism in Humans Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2–5, 1980
| Other Authors: | |
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| Format: | eBook |
| Language: | English |
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Dordrecht
Springer Netherlands
1982, 1982
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| Edition: | 1st ed. 1982 |
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| Online Access: | |
| Collection: | Springer Book Archives -2004 - Collection details see MPG.ReNa |
Table of Contents:
- Section One Pathogenic Mechanisms of Inborn Errors: Clinical Implications of Biochemical Diversity
- 1 Molecular aspects of genetic heterogeneity
- 2 Inborn errors of purine metabolism-The Milner Lecture
- 3 Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia
- 4 Homocystinuria: clinical and biochemical heterogeneity
- 5 Hereditary defects of steroid biosynthesis
- 6 Blood-brain barrier amino-acid transport: clinical implications
- Section Two Treatment: New Aspects and Limits, Transplantation, Replacement Therapy, Genetic Engineering
- 7 Recent studies on the maturation of lysosomal enzymes
- 8 Enzyme substitution by fibroblast transplantation
- 9 Artificial cell-encapsulated enzymes and adsorbents in congenital metabolic disorders
- 10 Prospects for enzyme replacement therapy in heritable metabolic disorders
- Section Three Inborn Errors of Metabolism affecting Brain Development (Animal Models)
- 11 Inborn errors of metabolism affecting brain development-Introduction
- 12 Mutations in mice affecting brain development and their correlations with human diseases
- 13 Murine mutations affecting myelination: models to study myelin diseases in the human
- 14 The effect of phenylalanine on myelin metabolism in adolescent rats
- 15 Abnormal oligodendrocyte differentiation in a mouse mutant with defect in myelination
- Section Four Consequences of Inborn Errors of Metabolism for the Individual, the Family and Society
- 16 Inborn errors of metabolism consequences of long-term treatment for the individual, as derived from observations in phenylketonuria
- 17 Social aspects of the handicapped person
- 18 Psychological and educational aspects of handicap
- 19 Repercussions of screening
- 20 Some principles in the management of inherited metabolic disease