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Article

Molecular diagnosis and inborn errors of metabolism: a practitioner's view.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Cederbaum S

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11339655
DOI: 10.1097/00125817-200011000-00007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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