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Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases /

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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 conditi...

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Bibliographic Details
Main Author: Blau, Nenad
Corporate Author: SpringerLink (Online service)
Other Authors: Duran, Marinus, Blaskovics, Milan E., Gibson, K. Michael
Format: eBook
Language:English
Published: Berlin, Heidelberg : Springer Berlin Heidelberg, 2003.
Edition:Second edition.
Subjects:
Diagnosis, Laboratory > Handbooks, manuals, etc.
Metabolism > Disorders > Diagnosis > Handbooks, manuals, etc.
Metabolism, Inborn errors of > Diagnosis > Handbooks, manuals, etc.
Diagnosis, Laboratory.
Metabolism > Disorders > Diagnosis.
Metabolism, Inborn errors of > Diagnosis.
Electronic books.
Handbooks, manuals, etc.
Online Access:Connect to the full text of this electronic book
Table of 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.