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Article

[The contribution of molecular genetics to hereditary neurometabolic disorders].

Revista de neurologia - 1 Jan 2000

Coll M J, Ribes A

Abstract excerpt

In this article we review the main contribution of molecular genetics to understanding hereditary neurometabolic disorders. This includes improvement in diagnosis, especially in X chromosome linked disorders and illness due to the protein or gene expression in tissues which are difficult to obtain. Moreover molecular biology, as a diagnostic tool, has contributed decisively to genetic counselling by permitting...

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PMID: 12221628

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

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