ENGLISH

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

By R. W. E. Watts (auth.) , Privat-Dozentin Dr. Ursula Gresser (eds.)

Book information

Publisher
Springer-Verlag Berlin Heidelberg
Year
1993
ISBN
978-3-642-84964-0, 978-3-642-84962-6
DOI
10.1007/978-3-642-84962-6
Language
english
Format
PDF
Filesize
9 MB (9641097 bytes)
Edition
1
Pages
182\187
Time added
2013-12-12 02:00:00
Molecular Medicine; Metabolic Diseases

Description

Inherited disorders of purine and pyrimidine metabolism in man lead to severe diseases. At the 2nd M}nchner Adventssymposium the state of the art as to the genetic basis, clinical aspects, and the biochemical basis has been given by leading experts in the fields concerning the following diseases: Hypoxanthine phosphoribosyltransferase deficiency (HGPRT-deficieny), adenine phosphoribosyltransferase deficiency (APRT-deficiency), hyperuricemia and gout, adenosine deaminase deficiency (ADA-deficiency, purine nucleoside phosphorylase deficiency (PNP-deficiency). All contributions of the symposium are published within this volume thus giving and overview of this most interesting field.

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