Inborn Errors of Metabolism in Humans
Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2-5, 1980
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 E…
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Produktdetails
- ISBN: 978-94-009-7327-5
- EAN: 9789400973275
- Produktnummer: 15467426
- Verlag: Springer Netherlands
- Sprache: Englisch
- Erscheinungsjahr: 2011
- Seitenangabe: 316 S.
- Masse: H22.9 cm x B15.2 cm x D1.7 cm 460 g
- Auflage: Softcover reprint of the original 1st ed. 1982
- Abbildungen: Paperback
- Gewicht: 460
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