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Article

Outcome of three cases of untreated maternal glutaric aciduria type I.

European journal of pediatrics - 1 May 2008

Garcia Paula, Martins Esmeralda, Diogo Luísa, Rocha Hugo, Marcão Ana, Gaspar Eurico, Almeida Margarida, Vaz Catarina, Soares Isabel, Barbot Clara, Vilarinho Laura

Abstract excerpt

We report, for the first time, the outcome of three children born to two women with untreated glutaric aciduria type I (GA I). Isolated hypocarnitinemia in neonatal screening in one baby allowed the identification of the disease in his mother, who was undiagnosed so far and had had a previous daughter. The other baby was born to an already diagnosed mother who was not treated; newborn screening in the child...

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PMID: 17661081
DOI: 10.1007/s00431-007-0556-2

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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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