Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, w. CD-ROM
Foreword by C. R. Scriver
(Sprache: Englisch)
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...
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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 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. Systemvoraussetzungen PC:
Pentium, Windows 95 OSR 2.0/98 SE/Me/NT 4.0 with Service Pack 5/2000/XP, 64 MB of RAM, 24 MB of available hard-disk space.
Systemvoraussetzungen Macintosh:
Power PC, System 8.6/9.0.4/9.1/OS, 64 MB of RAM, 24 MB of available hard-disk space.
The program also runs under UNIX computers when the free Adobe Acrobat Reader is installed.
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.
Inhaltsverzeichnis zu „Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, w. CD-ROM “
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.
Bibliographische Angaben
- 2005, 2nd ed., XXXVII, 716 Seiten, mit farbigen Abbildungen, Maße: 25 cm, Gebunden, Englisch
- Ed. by Nenad Blau, Marinus Duran, Milan E. Blaskovics et al.
- Verlag: Springer, Berlin
- ISBN-10: 354042542X
- ISBN-13: 9783540425427
Sprache:
Englisch
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