Disease: Mitochondrial encephalomyopathy aminoacidopathy
- 99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders
- A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60
- A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria
- An unusual aminoacidopathy associated with mitochondrial encephalomyopathy
- Brain single-photon emission computed tomography for behavior disorders in children
- Clinical proton MR spectroscopy of neurodegenerative disease in childhood
- Clinical, biochemical and genetic analysis of the mitochondrial disorders presenting with cardiac damage
- Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family
- Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant
- Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria
- Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
- Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
- Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship
- Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
- Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules
- New indications and controversies in arginine therapy
- Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome-9
- Recent advances in liver transplantation for metabolic disease
- Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation
- Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications
- Strokes and their causes in children
- Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients