So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager

This publication has 17 references indexed in Scilit:

• Clear relationship betweenETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency
  Human Mutation, 2003
• Late-onset form of β-electron transfer flavoprotein deficiency
  Molecular Genetics and Metabolism, 2003
• Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
  Human Mutation, 2001
• Glutaric Aciduria Type II: Observations in Seven Patients With Neonatal- and Late-Onset Disease
  Journal of Perinatology, 2000
• Development of validated disease activity and damage indices for the juvenile idiopathic inflammatory myopathies: II. The childhood myositis assessment scale (CMAS): a quantitative tool for the evaluation of muscle function
  Arthritis & Rheumatism, 1999
• Development of validated disease activity and damage indices for the juvenile idiopathic inflammatory myopathies. I. Physician, parent, and patient global assessments
  Arthritis & Rheumatism, 1997
• Newly Identified Forms of Electron Transfer Flavoprotein Deficiency in Two Patients with Glutaric Aciduria Type II
  Pediatric Research, 1991
• Riboflavin‐responsive defects of β‐oxidation
  Journal of Inherited Metabolic Disease, 1985
• Glutaric acidaemia type II (multiple Acyl‐Coa dehydrogenation deficiency)
  Journal of Inherited Metabolic Disease, 1984
• Glutaric aciduria type II: Report on a previously undescribed metabolic disorder
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1976