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Bibliographic Record Display

• Author/Creator:Blau, N. (Nenad), 1946-
  
• Title:Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases [electronic resource] / edited by Nenad Blau, Marinus Duran, Milan E. Blaskovics, K. Michael Gibson.
  
• ISBN:9783642558788
  
• Edition:Second Edition.
  
• Published/Created:Berlin, Heidelberg : Springer Berlin Heidelberg, 2003.
  
• Physical Description:1 online resource.
  
• Links:https://yale.idm.oclc.org/login?URL=http://dx.doi.org/10.1007/978-3-642-55878-8
  

• Yale Holdings

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  • Location:Yale Internet Resource
    Information about Off Campus Access
    
    
  • Call Number: None
    
  • Status:No information available 
  • Notes: Online resource
    

   
• Local Notes:Access is available to the Yale community.
  
• Access and use:Access restricted by licensing agreement.
• Summary:Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.
  
• Variant and related titles:Springer ebooks.
  
• Other formats:Printed edition:
  
• Format:Book
• Contents:Diagnosis -- Simple tests; Amino acid analysis; Organic acid analysis ; Misc. analyses; Tandem mass spectrometry; Proton NMR spectroscopy. Disorders -- Phenylalanine, tetrahydrobiopterin metab.; Neurotransmitter metab.; GABA, serine, glycine, prolin; Tyrosinemias; Histidine metab.; Leucine metab.; Isoleucine-valine metab.; Organic acidurias; Gamma-glutamyl cycle; Sulfur amino acids; Inher. hyperamonemias; Ornitine, lysine, tryptopha; Defect. transport of amino acids; Fatty acids beta-oxidation; Carbohydrates, glycogen disorders; Glucose transport; Glycerol metab.; Mucopolysaccharidoses; Oligosaccharidoses, related disorders; Congenital disorders glycosylation; Cystinosis; Storage disorders; Purine, pyrimidine; Creatine synthesis, transport defects; Peroxisomal disorders; Hyperoxalurias; Mitochondrial disorders; Genetic dyslipoproteinemias; Steroid synthesis, metab.; Inborn errors cholesterol biosynthesis; Porphyrias; Bile acid synthesis; Cu, Zn, Fe metab.; Leukotrienes.
  
• Subjects:Life sciences.
  Medical laboratories.
  Family medicine.
  Pediatrics.
  Biochemistry.
  
• Also listed under:Duran, Marinus.
  Blaskovics, Milan E.
  Gibson, K. Michael.
  SpringerLink (Online service)