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• Title:Inborn metabolic diseases : diagnosis and treatment / John Fernandes [and others], editors.
  
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• Other Contributors/Collections:Fernandes, J. (John), 1921-
  
• Published/Created:Heidelberg : Springer, ©2006.
  

• Holdings

  Holdings Record Display

  • Location:WOODWARD LIBRARY stacksWhere is this?
    
  • Call Number: WD205 .I526 2006
    
  • Number of Items:1
    
  • Status:Available
    

   
• Library of Congress Subjects:Metabolism, Inborn errors of.
  
• Edition:4th, rev. ed.
  
• Description:xxii, 561 p. : ill. ; 28 cm.
  
• Notes:Includes bibliographical references and index.
  
• ISBN:9783540287834 (alk. paper)
  3540287833 (alk. paper)
  
• Contents:1. clinical approach to inherited metabolic diseases / Jean-Marie Saudubray, Isabelle Desguerre, Frederic Sedel and Christiane Charpentier
  2. Newborn screening for inborn errors of metabolism / Bridget Wilcken
  3. Diagnostic procedures : function tests and postmortem protocol / Guy Touati, Jan Huber and Jean-Marie Saudubray
  4. Emergency treatments / Viola Prietsch, Helene Ogier de Baulny and Jean-Marie Saudubray
  5. Treatment : present status and new trends / John H. Walter and J. Ed Wraith
  6. glycogen storage diseases and related disorders / G. Peter A. Smit, Jan Peter Rake, Hasan O. Akman and Salvatore DiMauro
  7. Disorders of galactose metabolism / Gerard T. Berry, Stanton Segal and Richard Gitzelmann
  8. Disorders of the pentose phosphate pathway / Nanda M. Verhoeven and Cornelis Jakobs
  9. Disorders of fructose metabolism / Beat Steinmann, Rene Santer and Georges van den Berghe
  10. Persistent hyperinsulinemic hypoglycemia / Pascale de Lonlay and Jean-Marie Saudubray
  11. Disorders of glucose transport / Rene Santer and Jorg Klepper
  12. Disorders of pyruvate metabolism and the tricarboxylic acid cycle / Linda J. De Meirleir, Rudy Van Coster and Willy Lissens
  13. Disorders of mitochondrial fatty acid oxidation and related metabolic pathways / Charles A. Stanley, Michael J. Bennett and Ertan Mayatepek
  14. Disorders of ketogenesis and ketolysis / Andrew A. M. Morris
  15. Defects of the respiratory chain / Arnold Munnich
  16. Creatine deficiency syndromes / Sylvia Stockler-Ipsiroglu and Gajja S. Salomons
  17. Hyperphenylalaninaemia / John H. Walter, Philip J. Lee and Peter Burgard
  18. Disorders of tyrosine metabolism / Anupam Chakrapani and Elisabeth Holme
  19. Branched-chain organic acidurias/acidemias / Udo Wendel and Helene Ogier de Baulny
  20. Disorders of the urea cycle and related enzymes / James V. Leonard
  21. Disorders of sulfur amino acid metabolism / Generoso Andria, Brian Fowler and Gianfranco Sebastio
  22. Disorders of ornithine metabolism / Vivian E. Shih and Matthias R. Baumgartner
  23. Cerebral organic acid disorders and other disorders of lysine catabolism / Georg F. Hoffmann
  24. Nonketotic hyperglycinemia (glycine encephalopathy) / Olivier Dulac and Marie-Odile Rolland
  25. Disorders of proline and serine metabolism / Jaak Jaeken
  26. Transport defects of amino acids at the cell membrane : cystinuria, lysinuric protein intolerance and hartnup disorder / Kirsti Nanto-Salonen and Olli G. Simell
  27. Biotin-responsive disorders / Matthias R. Baumgartner and Terttu Suormala
  28. Disorders of cobalamin and folate transport and metabolism / David S. Rosenblatt and Brian Fowler
  29. Disorders of neurotransmission / Jaak Jaeken, Cornelis Jakobs, Peter T. Clayton and Ron A. Wevers
  30. Disorders in the metabolism of glutathione and imidazole dipeptides / Ellinor Ristoff, Agne Larsson and Jaak Jaeken
  31. Trimethylaminuria and dimethylglycine dehydrogenase deficiency / Valerie Walker and Ron A. Wevers
  32. Dyslipidemias / Annabelle Rodriguez-Oquendo and Peter O. Kwiterovich, Jr.
  33. Disorders of cholesterol synthesis / Hans R. Waterham and Peter T. Clayton
  34. Disorders of bile acid synthesis / Peter T. Clayton
  35. Disorders of purine and pyrimidine metabolism / Georges van den Berghe, M.-Francoise Vincent and Sandrine Marie
  36. Disorders of heme biosynthesis / Norman G. Egger, Chul Lee and Karl E. Anderson
  37. Disorders in the transport of copper, zinc and magnesium / Roderick H. J. Houwen
  38. Disorders of sphingolipid metabolism / Marie-Therese Vanier
  39. Mucopolysaccharidoses and oligosaccharidoses / J. Ed Wraith
  40. Peroxisomal disorders / Bwee Tien Poll-The, Patrick Aubourg and Ronald J. A. Wanders
  41. Congenital disorders of glycosylation / Jaak Jaeken
  42. Cystinosis / Michel Broyer
  43. Primary hyperoxalurias / Pierre Cochat and Marie-Odile Rolland.