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

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

(2010) T. Honzik et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS