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Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Journal of inherited metabolic disease·2007

Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.

Journal of inherited metabolic disease·2006

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.

Journal of inherited metabolic disease·2004

Glutaric aciduria type I: outcome in the Republic of Ireland.

Journal of inherited metabolic disease·2004

Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge.

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Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

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Isoform usage dynamics in metabolic adaptation.

Trends in endocrinology and metabolism: TEM·2026

Metabolite extraction as a coverage gate in metabolomics.

Current opinion in biotechnology·2026

Quantitative and comparative assessment of Tc-99 m MIBI imaging in parathyroid adenomas: associations with biochemical, morphological, and histopathological.

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Detection of inborn errors of metabolism. III. Defects in urea cycle metabolism

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Studies of chloroplast development in Euglena XV. Factors influencing the decay of photoreactivability of green colony formation.

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

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