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Article

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2013

Couce Ma Luz, López-Suárez Olalla, Bóveda Ma Dolores, Castiñeiras Daisy E, Cocho José A, García-Villoria Judith, Castro-Gago Manuel, Fraga José Ma, Ribes Antonia

Abstract excerpt

Patients with Glutaric aciduria type 1 (GA-1) can be identified by newborn screening using tandem mass spectrometry. The clinical evolution of screened patients seems to be more favourable compared with those diagnosed later, although long-term evolution is still doubtful. We have evaluated the outcome in nine GA-1 patients diagnosed in our region during 12 years. Six were detected by newborn screening and 3...

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Source

Identifiers

PMID: 23395213
DOI: 10.1016/j.ejpn.2013.01.003

Genes

GCDH

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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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