http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
Molecular genetics, biochemistry and clinical aspects of inherited disorders of purine and pyrimidine metabolism
Münchener Adventssymposium on Purine and Pyrimidine Metabolism 1991 : University of Munich)
Purine salvage enzymes -- Hypoxanthine guanine phosphoribosyltransferase (HGPRT) deficiency -- Introductory remarks -- Clinical aspects of HGPRT deficiency -- Biochemical basis of HGRPT deficiency -- Prenatal diagnosis of lesch-nyhan syndrome -- Genetic basis of HGPRT deficiency -- Adenine phosphoribosyltransferase (APRT) deficiency -- Clinical aspects of APRT deficiency -- Biochemical basis of APRT deficiency -- Genetic basis of APRT deficiency -- Hyperuricemia and gout caused by a defect in renal transport -- Clinical aspects of hyperuricemia and gout -- Biochemical basis of hyperuricemia and gout -- Genetic basis of hyperuricemia and gout -- Immunodeficiency disease : adenosine deaminase (ADA) and purine-nucleoside phosphorylase (PNP) deficiencies -- Introductory remarks
Clinical aspects of ADA and PNP deficiencies -- Biochemical basis and pathophysiology of ADA and PNP deficiencies -- Genetic and metabolic basis of ADA deficiency -- Purine nucleotide cycle -- Myoadenylate (muscle AMP) deaminase deficiency -- Clinical aspects and biochemical basis of AMP deaminase deficiency : a clinician's point of view -- AMP deaminase multigene family in rats and humans -- Genetic basis of myoadenylate deaminase deficiency in man -- Adenylosuccinate lyase (ASase) deficiency -- Clinical aspects of ASase deficiency -- Biochemical aspects of ASase deficiency -- Genetic basis of ASase deficiency -- Pyrimidine metabolism -- Dihydropyrimidinuria presenting in childhood with severe developmental retardation
Clinical aspects of inherited defects in pyrimidine degradation -- Dihydropyrimidine dehydrogenase deficiency : biochemical and genetic basis
U. Gresser (ed.) ; with contributions by R.A. de Abreu [and others].
"This book summarizes the results of the 2nd Munchener Adventssymposium on Purine and Pyrimidine Metabolism, held in December 1991 at the Medizinische Poliklinik of the University of Munich"--P. [vii].
Purine-Pyrimidine Metabolism, Inborn Errors