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Article

Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment.

Irish journal of medical science - 1 Dec 2013

Morrissey L, Tiernan C A, Lambert D, O'Reilly E, Treacy E P

Abstract excerpt

BACKGROUND: Hereditary metabolic diseases (HMDs) are almost all rare diseases, many of which, if ascertained are treatable and preventable causes of intellectual and general disability. The improved detection and treatment of HMDs in paediatric practice has resulted in increased survival into adult life. The identification of adult patients with HMDs who may benefit from new emerging treatments is challenging. As...

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PMID: 23526233
DOI: 10.1007/s11845-013-0927-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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