Techniques in Diagnostic Human Biochemical Genetics

A Laboratory Manual

F.A. Hommes (Autor)

Buch | Hardcover

660 Seiten

1990
John Wiley & Sons Inc (Verlag)
978-0-471-56818-6 (ISBN)

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Presents descriptions of the procedures currently in use in diagnostic biochemical genetics laboratories around the world. It offers not only accounts of methodology, but also provides guidelines for the interpretation of both standard and abnormal results.

Detailed and specific descriptions of the procedures currently in use in diagnostic biochemical genetics laboratories around the world are presented here. The study offers not only accounts of methodology, but also provides guidelines for the interpretation of both standard and abnormal results. Many of the chapters contain introductory sections describing background information of the development of a particular genetic test, and an evaluation of the clinical significance and applicability of the test.

Basic Laboratory Principles; Statistical Considerations in the Genetic Interpretation of Biochemical Tests; Transmitting Genetic Information; Data Management - A LIMS for the Biochemical Genetics Laboratory; General Metabolic Screening Tests; Monosaccharides and Disaccharides; Amino Acid Analysis of Physiological Samples; Organic Acid Analysis; Measurement of Saturated Very Long Chain Fatty Acids in Plasma; Urinary Oligosaccharides; Galactose Metabolites and Disorders of Galactose Metabolism; Determination of Carnitine; Oxalic Acid in Plasma and Urine; Pterins; Determination of Protein Polymorphism of Apolipoproteins; Detection of Hemoglobinopathies; Screening for Lysosomal Disorders.

Erscheint lt. Verlag	25.4.1991
Zusatzinfo	Ill.
Verlagsort	New York
Sprache	englisch
Maße	59 x 83 mm
Gewicht	1332 g
Themenwelt	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
Themenwelt	Naturwissenschaften ► Biologie ► Biochemie
ISBN-10	0-471-56818-X / 047156818X
ISBN-13	978-0-471-56818-6 / 9780471568186
Zustand	Neuware