3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

(2013) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

(2012) Mohammed A. Aldahmesh et al.   HUMAN MUTATION

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3

(2010) W. Pei et al.   DEVELOPMENT

The 3-methylglutaconic acidurias: what’s new?

(2010) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

3-Methylglutaconic aciduria type I redefined: A syndrome with late-onset leukoencephalopathy

(2010) S. B. Wortmann et al.   NEUROLOGY

Mutation in dystrophin-encoding gene affects energy metabolism in mouse myoblasts

(2009) Marta Onopiuk et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy

(2009) Gyula Acsadi et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

(2009) Eva Morava et al.   MITOCHONDRION

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

(2009) Yves de Keyzer et al.   PEDIATRIC RESEARCH