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

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

Ursula Gresser (Herausgeber)

Buch | Softcover
XIV, 182 Seiten
2011 | 1. Softcover reprint of the original 1st ed. 1993
Springer Berlin (Verlag)
978-3-642-84964-0 (ISBN)
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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.

I Purine Salvage Enzymes.- IA Hypoxanthine Guanine Phosphoribosyltransferase (HGPRT) Deficiency 3.- 1 Introductory Remarks.- 2 The Clinical Aspects of HGPRT Deficiency.- 3 The Biochemical Basis of HGPRT Deficiency.- 4 Prenatal Diagnosis of Lesch-Nyhan Syndrome.- 5 The Genetic Basis of HGPRT Deficiency.- IB Adenine Phosphoribosyltransferase (APRT) Deficiency 41.- 1 The Clinical Aspects of APRT Deficiency.- 2 The Biochemical Basis of APRT Deficiency.- 3 The Genetic Basis of APRT Deficiency.- II Hyperuricemia and Gout Caused by a Defect in Renal Transport.- 1 The Clinical Aspects of Hyperuricemia and Gout.- 2 The Biochemical Basis of Hyperuricemia and Gout.- 3 The Genetic Basis of Hyperuricemia and Gout.- III Immunodeficiency Disease: Adenosine Deaminase (ADA) and Purine-Nucleoside Phosphorylase (PNP) Deficiencies.- 1 Introductory Remarks.- 2 The Clinical Aspects of ADA and PNP Deficiencies.- 3 The Biochemical Basis and Pathophysiology of ADA and PNP Deficiencies.- 4 The Genetic and Metabolic Basis of ADA Deficiency.- IV The Purine Nucleotide Cycle.- IVA Myoadenylate (Muscle AMP) Deaminase Deficiency 115.- 1 Clinical Aspects and Biochemical Basis of AMP Deaminase Deficiency: A Clinician's Point of View.- 2 The AMP Deaminase Multigene Family in Rats and Humans.- 3 The Genetic Basis of Myoadenylate Deaminase Deficiency in Man.- IVB Adenylosuccinate Lyase (ASase) Deficiency 140.- 1 The Clinical Aspects of ASase Deficiency.- 2 The Biochemical Aspects of ASase Deficiency.- 3 The Genetic Basis of ASase Deficiency.- V Pyrimidine Metabolism.- 1 Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation.- 2 The Clinical Aspects of Inherited Defects in Pyrimidine Degradation.- 3 Dihydropyrimidine Dehydrogenase Deficiency: Biochemical and Genetic Basis.

Erscheint lt. Verlag 15.12.2011
Co-Autor R.A. De Abreu, J. Aimi, F.X. Arredondo-Vega, B.A. Barshop, M.T. Bausch-Jurken, F.Van den Bergh, G. van den Berghe, P. Casaer, J. Chen, P. De Cock, B.L. Davidson, P.M. Davies, J.E. Dixon, J.A. Duley, W. Friedrich, B.S. Gathof, U. Gresser, M. Gross, W. Gutensohn, W. Hartmann, J.F. Hendersohn, M.J. Hendersohn, M.S. Hershfield, J. Jaeken, I. Kamilli, D.K. Mahnke-Zizelman, F.A. Mateos, B.S. Mitchell, J.G. Puig, B.J. Roessler, R.L. Sabina, A.S. Sahota, I. Santisteban, Y.S. Shin, H.A: Simmonds, P.J. Stambrook, R.L. Stone, J.A. Tischfield, M. Tuchmann, M.F. Vincent, D.R. Wagner, K. Ward, R.W.E. Watts, H. Zalkin, N. Zöllner
Zusatzinfo XIV, 182 p.
Verlagsort Berlin
Sprache englisch
Maße 133 x 203 mm
Gewicht 231 g
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete
Studium 1. Studienabschnitt (Vorklinik) Biochemie / Molekularbiologie
Naturwissenschaften Biologie Genetik / Molekularbiologie
Schlagworte ADA-Deficiency • adenosine • APRT-Deficiency • biochemistry • Chemistry • Diseases • Genetics • Gicht • Gout • HGPRT-Deficiency • Hyperuricemia • Hyperurikämie • lead • Metabolic disease • Metabolism • molecular genetics
ISBN-10 3-642-84964-4 / 3642849644
ISBN-13 978-3-642-84964-0 / 9783642849640
Zustand Neuware
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