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Article

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

Pediatric research - 1 Sept 2007

Kölker Stefan, Garbade Sven F, Boy Nikolas, Maier Esther M, Meissner Thomas, Mühlhausen Chris, Hennermann Julia B, Lücke Thomas, Häberle Johannes, Baumkötter Jochen, Haller Wolfram, Muller Edith, Zschocke Johannes, Burgard Peter, Hoffmann Georg F

Abstract excerpt

Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare neurometabolic disorder that is considered treatable if patients are identified before the onset of acute encephalopathic crises. To allow early identification of affected individuals, tandem mass spectrometry-based newborn screening for GCDH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17622945
DOI: 10.1203/PDR.0b013e318137a124

Genes

GCDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17622945-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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