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Article

Diagnostic approach in adult-onset neurometabolic diseases.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2022

Fernández-Eulate Gorka, Carreau Christophe, Benoist Jean-François, Lamari Foudil, Rucheton Benoit, Shor Natalia, Nadjar Yann

Abstract excerpt

Neurometabolic diseases are a group of individually rare but numerous and heterogeneous genetic diseases best known to paediatricians. The more recently reported adult forms may present with phenotypes strikingly different from paediatric ones and may mimic other more common neurological disorders in adults. Furthermore, unlike most neurogenetic diseases, many neurometabolic diseases are treatable, with both...

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Identifiers

PMID: 35140137
DOI: 10.1136/jnnp-2021-328045
PMCID: PMC8921565

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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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