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Article

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

BioMed research international - 1 Jan 2014

Szymańska Krystyna, Szczałuba Krzysztof, Lugowska Agnieszka, Obersztyn Ewa, Radkowski Marek, Nowakowska Beata A, Kuśmierska Katarzyna, Tryfon Jolanta, Demkow Urszula

Abstract excerpt

Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attaine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 16

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Source

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Identifiers

PMID: 24949445
DOI: 10.1155/2014/424796
PMCID: PMC4052700

Genes

GALC
MAF
PSAP
WWOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24949445-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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