title: Molecular diagnosis and inborn errors of metabolism: a practitioner's view.
abstract: Recombinant DNA technology has altered completely the face of genetics and its clinical practice. cDNAs for enzymes involved in inborn errors were among the first cloned, but the impact of this advance on our subspecialty has been more limited. This discussion addresses the uses and "abuses" of recombinant DNA technology in the field, and areas of greater or lesser usefulness in current practice, and the future, are discussed.
authors.affiliation: Department of Psychiatry, Mental Retardation Research Center, UCLA, Los Angeles, California 90024-1759, USA. scederbaum@mednet.ucla.edu
authors.forename: S
authors.initials: S
authors.lastname: Cederbaum
mesh_terms: D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism; D004274:DNA, Recombinant / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D009154:Mutation / Q000235:genetics; D010661:Phenylketonurias / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D004272:DNA, Mitochondrial; D004274:DNA, Recombinant