Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism
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Inherited disorders of purine and pyrimidine metabolism inman lead to severe diseases. At the 2nd M}nchnerAdventssymposium the state of the art as to the geneticbasis, clinical aspects, and the biochemical basis has beengiven by leading experts in the fields concerning thefollowing diseases: Hypoxanthine phosphoribosyltransferasedeficiency (HGPRT-deficieny), adeninephosphoribosyltransferase deficiency (APRT-deficiency),hyperuricemia and gout, adenosine deaminase deficiency(ADA-deficiency, purine nucleoside phosphorylase deficiency(PNP-deficiency). All contributions of the symposium arepublishe...
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.
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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