Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

(2010) Marjan E. Steenweg et al.   HUMAN MUTATION

Mitochondria and reactive oxygen species

(2009) Alicia J. Kowaltowski et al.   FREE RADICAL BIOLOGY AND MEDICINE

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

(2009) Martijn Kranendijk et al.   HUMAN MUTATION

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

(2009) V. Valayannopoulos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

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

l-2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients

(2009) Marjan E. Steenweg et al.   RADIOLOGY

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis

(2008) Judit García-Villoria et al.   CLINICAL BIOCHEMISTRY

Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

(2008) Kutluhan Yilmaz   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mitochondrial dysfunction in mut methylmalonic acidemia

(2008) Randy J. Chandler et al.   FASEB JOURNAL

Astrocytic proliferation and mitochondrial dysfunction induced by accumulated glutaric acidemia I (GAI) metabolites: Possible implications for GAI pathogenesis

(2008) Silvia Olivera et al.   NEUROBIOLOGY OF DISEASE

Mitochondrial Dysfunction in Neurodegenerative Diseases

(2008) Anthony H. V. Schapira   NEUROCHEMICAL RESEARCH

Clinical Approach to the Diagnoses of Inborn Errors of Metabolism

(2008) Manmohan Kamboj   PEDIATRIC CLINICS OF NORTH AMERICA