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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 attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was required....

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

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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