عنوان

Inborn Errors of Metabolism in Humans :

(Number (ISBN

940097325X

(Number (ISBN

9789400973251

Number

b593835

Title Proper

Inborn Errors of Metabolism in Humans :

General Material Designation

[Book]

Other Title Information

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

First Statement of Responsibility

edited by Forrester Cockburn, Richard Gitzelmann.

Place of Publication, Distribution, etc.

Dordrecht

Name of Publisher, Distributor, etc.

Springer Netherlands

Date of Publication, Distribution, etc.

1982

Specific Material Designation and Extent of Item

(296 pages)

Text of Note

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.

Class number

Book number

edited by Forrester Cockburn, Richard Gitzelmann.

Forrester Cockburn

Richard Gitzelmann

Electronic name

[Book]

Y