Download Genetic Errors of Glycoprotein Metabolism eBook
by P. Durand,J.S. O'Brien
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.