Physician's guide to the laboratory diagnosis of metabolic diseases

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Bibliographic Information

Physician's guide to the laboratory diagnosis of metabolic diseases

N. Blau ... [et al.], eds. ; foreword by C.R. Scriver

Springer, c2003

2nd ed

  • : hd. : alk. paper

Other Title

Laboratory diagnosis of metabolic diseases

Available at  / 2 libraries

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Note

System requirements for accompanying CD-ROM: Microsoft Windows 95 OSR 2.0, Windows 98 SE, Windows Millennium Edition, Windows NT 4.0 with Service Pack 5, Windows 2000, or Windows XP ; Mac OS version 8.6, 9.0.4, 9.1 or Mac OS x ; some UNIX versions

Includes bibliographical references and index

Description and Table of Contents

Description

This second edition of "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. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. This guide, which includes a CD-ROM, describes 298 disorders which have been 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 three indices to make the book as user-friendly as possible.

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.

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