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By William L. Nyhan M.D., Bruce A. Barshop M.D., Pinar T. Ozand M.D.

ISBN-10: 0340809701

ISBN-13: 9780340809709

In a box the place even specialists might locate that years have elapsed given that they final encountered a baby with a given sickness, it's crucial for the clinician to have a complete resource of functional and hugely illustrated details protecting the complete spectrum of metabolic affliction to consult. the second one variation of this extremely popular ebook, authored through 3 of the main professionals in pediatric metabolic drugs, fulfils this want via offering a useful perception into the issues linked to metabolic illnesses. For ease of reference, Atlas of Metabolic illness is split into sections of comparable issues, comparable to issues of amino acid metabolism, lipid garage problems and mitochondrial ailments, with an introductory define the place acceptable summarizing the biochemical positive factors and normal administration matters. inside sections each one bankruptcy offers with someone illness, beginning with an invaluable precis of significant phenotypic expression and together with transparent and valuable biochemical pathways, choosing for the reader precisely the place the disorder is happening. during the ebook, ample photos, usually displaying super infrequent issues, are a useful reduction to analysis.

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J Pediatr 1980;96:425. 91 Ney DN, Bay C, Saudubray J-M, et al. An evaluation of protein requirements in methylmalonic acidaemia. J Inherit Metab Dis 1985;8:132. 92 Kelts DG, Ney D, Bay C, et al. Studies on requirements for amino acids in infants with disorders of amino acid metabolism. I. Effects of alanine. Pediatr Res 1985;19:86. References 93 Van der Meer SB, Poggi F, Spada M, et al. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr 1994;125:903.

Pediatr Nephrol 1998;12:564. 48 Gravel RA, Mahoney MJ, Ruddle FH, Rosenberg LE. Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci USA 1975;72:3181. 49 Willard HF, Mellman IS, Rosenberg LE. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant. Am J Hum Genet 1978;30:1. 50 Coulombe JT, Shih VE, Levy HL. Massachusetts metabolic disorders screening program.

80 Marsden D, Barshop BA, Capistrano-Estrada S, et al. Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. Biochem Med Metab Biol 1994;52:145. 81 Thompson GN, Chalmers RA. Increased urinary metabolite excretion during fasting in disorders of propionate metabolism. Pediatr Res 1990;27:413. 82 Thompson GN, Walter JH, Bresson JL, et al. Sources of propionate in inborn errors of metabolism. Metabolism 1990;39:1133. 83 Nyhan WL, Rice-Asaro M, Acosta P. Advances in the treatment of amino acid and organic acid disorders, in Treatment of Genetic Diseases, Desnick RJ (ed.

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Atlas of Metabolic Diseases, 2nd Edition by William L. Nyhan M.D., Bruce A. Barshop M.D., Pinar T. Ozand M.D.


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