عنوان

Inborn Errors of Metabolism in Humans :

940097325X

9789400973251

b593835

Inborn Errors of Metabolism in Humans :

[Book]

Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2-5, 1980

edited by Forrester Cockburn, Richard Gitzelmann.

Dordrecht

Springer Netherlands

1982

(296 pages)

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.

Internal medicine.

Medicine.

Pediatrics.

edited by Forrester Cockburn, Richard Gitzelmann.

Forrester Cockburn

Richard Gitzelmann

[Book]

Y