Inborn metabolic diseases : diagnosis and treatment /

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Bibliographic Details
Edition:2nd ed.
Imprint:Berlin ; New York : Springer-Verlag, c1996.
Description:xv, 442 p. : ill. ; 28 cm.
Language:English
Subject:
Format: Print Book
URL for this record:http://pi.lib.uchicago.edu/1001/cat/bib/2415848
Hidden Bibliographic Details
Other authors / contributors:Fernandes, J. (John), 1921-
Saudubray, J. M. (Jean-Marie), 1937-
Van den Berghe, Georges, 1938-
ISBN:354058546X (alk. paper)
Notes:Includes bibliographical references and index.

MARC

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245 0 0 |a Inborn metabolic diseases :  |b diagnosis and treatment /  |c J. Fernandes, J.-M. Saudubray, G. van den Gerghe (eds.) ; consulting editors, Keiya Tada, N.R.M. Buist. 
250 |a 2nd ed. 
260 |a Berlin ;  |a New York :  |b Springer-Verlag,  |c c1996. 
300 |a xv, 442 p. :  |b ill. ;  |c 28 cm. 
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338 |a volume  |b nc  |2 rdacarrier  |0 http://id.loc.gov/vocabulary/carriers/nc 
504 |a Includes bibliographical references and index. 
505 0 0 |g 1.  |t Clinical Approach to Inherited Metabolic Diseases /  |r J.-M. Saudubray, H. Ogier and C. Charpentier --  |g 2.  |t Diagnostic Procedures: Function Tests and Postmortem Protocol /  |r J. Fernandes and J.-M. Saudubray --  |g 3.  |t Emergency Treatments /  |r H. Ogier and J.-M. Saudubray --  |g 4.  |t Psychosocial Care of the Child and Family /  |r J. C. Harris --  |g 5.  |t Glycogen Storage Diseases /  |r J. Fernandes and Y.-T. Chen --  |g 6.  |t Disorders of Galactose Metabolism /  |r R. Gitzelmann --  |g 7.  |t Disorders of Fructose Metabolism /  |r G. Van den Berghe --  |g 8.  |t Disorders of Gluconeogenesis /  |r N. R. M. Buist --  |g 9.  |t The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle /  |r D. S. Kerr and A. B. Zinn --  |g 10.  |t The Respiratory Chain /  |r A. Munnich --  |g 11.  |t Disorders of Fatty Acid Oxidation /  |r C. A. Stanley --  |g 12.  |t Hyperphenylalaninaemias /  |r I. Smith and D. P. Brenton --  |g 13.  |t Tyrosine /  |r E. A. Kvittingen, P. T. Clayton and J. V. Leonard --  |g 14.  |t Urea Cycle Disorders /  |r J. V. Leonard --  |g 15.  |t Homocystinuria Due to Cystathionine [beta]-Synthase Deficiency and Related Disorders /  |r G. Andria and G. Sebastio --  |g 16.  |t Ornithine /  |r V. E. Shih --  |g 17.  |t Nonketotic Hyperglycinemia /  |r K. Tada --  |g 18.  |t Disorders of the Gamma Glutamyl Cycle /  |r A. Larsson --  |g 19.  |t Disorders of Small Peptides /  |r J. Jaeken --  |g 20.  |t Branched-Chain Organic Acidurias /  |r H. Ogier, U. Wendel and J.-M. Saudubray --  |g 21.  |t Ketolysis Defects /  |r J.-M. Saudubray, N. Specola and C. Charpentier --  |g 22.  |t Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders /  |r G. F. Hoffmann --  |g 23.  |t Biotin-Responsive Multiple Carboxylase Deficiency /  |r R. Baumgartner and T. Suormala --  |g 24.  |t Inherited Disorders of Cobalamin and Folate Absorption and Metabolism /  |r D. S. Rosenblatt and M. I. Shevell --  |g 25.  |t Dyslipidemias /  |r G. Assmann, A. Von Eckardstein and P. Cullen --  |g 26.  |t Disorders of Purine and Pyrimidine Metabolism /  |r G. Van den Berghe and M. F. Vincent --  |g 27.  |t Disorders of Neurotransmitters /  |r J. Jaeken and C. Jakobs --  |g 28.  |t Copper: Wilson and Menkes Diseases /  |r D. M. Danks --  |g 29.  |t Genetic Defects Related to Metals Other Than Copper /  |r I. Lombeck --  |g 30.  |t Porphyrias /  |r Y. Nordmann --  |g 31.  |t Inborn Errors of Bile Acid Synthesis /  |r P. T. Clayton --  |g 32.  |t Bilirubin /  |r N. Yazigi and W. F. Balistreri --  |g 33.  |t Alpha-1-Antitrypsin Deficiency /  |r D. J. F. Feist --  |g 34.  |t Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance /  |r O. Simell and K. Parto --  |g 35.  |t Sphingolipids /  |r P. G. Barth --  |g 36.  |t Mucopolysaccharides and Oligosaccharides /  |r M. Beck and J. Spranger --  |g 37.  |t Cystinosis /  |r M. Broyer --  |g 38.  |t Carbohydrate-Deficient Glycoprotein Syndromes /  |r J. Jaeken --  |g 39.  |t Peroxisomal Disorders /  |r B. T. Poll-The and J.-M. Saudubray --  |g 40.  |t Oxalosis (Primary Hyperoxaluria) /  |r M. F. Gagnadoux and M. Broyer --  |g 41.  |t Liver Transplantation /  |r O. Bernard --  |g 42.  |t Bone Marrow Transplantation /  |r P. M. Hoogerbrugge and J. M. J. J. Vossen --  |g 43.  |t Somatic Gene Therapy /  |r F. D. Ledley. 
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650 1 2 |a Metabolism, Inborn Errors  |x diagnosis. 
650 2 2 |a Metabolism, Inborn Errors  |x therapy. 
653 0 |a Humans  |a Metabolic disorders 
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700 1 |a Van den Berghe, Georges,  |d 1938-  |0 http://id.loc.gov/authorities/names/n94803422  |1 http://viaf.org/viaf/84474274 
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