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Download Genetic Errors of Glycoprotein Metabolism eBook

by P. Durand,J.S. O'Brien

Download Genetic Errors of Glycoprotein Metabolism eBook
ISBN:
3540120661
Author:
P. Durand,J.S. O'Brien
Category:
Medicine
Language:
English
Publisher:
Springer; 1 edition (February 14, 1983)
Pages:
220 pages
EPUB book:
1594 kb
FB2 book:
1474 kb
DJVU:
1153 kb
Other formats
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Rating:
4.6
Votes:
121


First of all, why have

First of all, why have.

1982 May-Jun;4(3):177-84. In each of the separate diseases there is a relatively characteristic combination of clinical lesions, enzyme deficiency and storage of glycoconjugates which form the basis of classification.

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glycoprotein metabolic process. Known as: glycoprotein metabolism. The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (. monosaccharide) residues; th. xpand. National Institutes of Health.

Winchester, B. Lysosomal metabolism of glycoproteins. In Genetic Errors of Glycoprotein Metabolism; Durand, . O’Brien, . Ed. Edi-Ermes: Milan, Italy, 1982; pp. 89–122. Glycobiology 2005, 15, 1R–15R. Persichetti, . Klein, . Paciotti, . Lecointe, . Balducci, . Franken, . Duvet, . Matzner, . Roberti, . Hartmann, . et al. Lysosomal e-deficient mouse tissues accumulate Man2GlcNac2 and Man3GlcNac2. ISBN 8870510050, 9788870510058. Autio, . Louhimo, . Helenius, M. The clinical course of mannosidosis.

As its name implies, inborn errors means birth defects in newborn infants which passed down from family and affecting metabolism.

The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into.

The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

One of the best book on inborn error of metabolism combined with pediatric endocrinology. Well written, clinically oriented and provide deep understanding of each disease. Highly recommend to all endocrinogist with special interest in metabolic diseases

One of the best book on inborn error of metabolism combined with pediatric endocrinology. Highly recommend to all endocrinogist with special interest in metabolic diseases. The initial sections of acute clinical and emergency management both from diagnostic point of view and initial therapeutic intervention are valuable part of the textbook. The screening of inborn error of metabolism is well written and the classification of diseases making the reading of textbook a pleasant experience.

15. Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O: Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet 1999, 64:77-88. 16. Malm D, Nilssen O: Alpha-Mannosidosis.

On starting to write the preface it occured to the editors that it might be a good idea to incorporate so me organizational thoughts. First of all, why have. we organized this book on «Glycoprotein storage diseases", an unfamiliar area of pathology unlikely to be encountered in practice? In preparing such a volume we considered that in the past ten years there has been a large amount of intensive research activity on glycoproteinoses and no detailed review has been entirely devoted to this subject. This research has led to new information about hereditary mental retardation and progressive neurologie degeneration, and as clinicians we are impressed with its clinical importance. This volume is intended to represent for the uninitiated as weH as for the expert a summary of studies on dis orders of glycoprotein catabolism written by experts in each area. Each author has written with freedom about his particular experience, describing the establishment and development of his investigations, his methods, the utility and limitations of his work and eventual sources of problems. We are grateful for their many fundamental studies and for their having generously accepted to partecipate in this book. The Editors Acknowledgements We wish to express our gratitude to our friends and colleagues G. Romeo, W.S. Sly and G. Tettamanti whose criticism and suggestions have significantly improved the quality of particular chapters or sections.