Considerations on the management of pyruvate dehydrogenase deficiency
- Bruci A, Tuccinardi D, Tozzi R, et al. Very low-calorie ketogenic diet: a safe and effective tool for weight loss in patients with obesity and mild kidney failure. Nutrients. 2020; 12(2).
- DeBrosse SD, Okajima K, Zhang S, et al. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype. Mol Genet Metab. 2012; 107(3): 394–402.
- Ebertowska A, Ludkiewicz B, Klejbor I, et al. Pyruvate dehydrogenase deficiency - morphological and metabolic effects, creation of animal model to study and research for treatment therapy. Folia Morphol. 2020 [Epub ahead of print].
- Finsterer J, Frank M. Low-Glycemic-Index Diet Relieving Migraine but Inducing Muscle Cramps. J Neurosci Rural Pract. 2019; 10(3): 552–554.
- Finsterer J, Zarrouk Mahjoub S. Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders. Expert Opin Drug Metab Toxicol. 2012; 8(1): 71–79.
- Giribaldi G, Doria-Lamba L, Biancheri R, et al. Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. Dev Med Child Neurol. 2012; 54(5): 472–476.
- Holecek M, Vodenicarovova M. Phenylbutyrate exerts adverse effects on liver regeneration and amino acid concentrations in partially hepatectomized rats. Int J Exp Pathol. 2016; 97(3): 278–284.
- Holeček M. Branched-chain amino acid supplementation in treatment of liver cirrhosis: Updated views on how to attenuate their harmful effects on cataplerosis and ammonia formation. Nutrition. 2017; 41: 80–85.
- Kaufmann P, Engelstad K, Wei Y, et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006; 66(3): 324–330.
- Lissens W, Vreken P, Barth PG, et al. Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene. Eur J Pediatr. 1999; 158(10): 853–857.
- Mu C, Corley MJ, Lee RWY, et al. Metabolic framework for the improvement of autism spectrum disorders by a modified ketogenic diet: a pilot study. J Proteome Res. 2020; 19(1): 382–390.
- Salih MA, Abdel-Gader AGM, Zahraa JN, et al. Stroke in Saudi children. Epidemiology, clinical features and risk factors. Saudi Med J. 2006; 27 Suppl 1: S12–S20.
- Spiegler J, Stefanova I, Hellenbroich Y, et al. Bowel obstruction in patients with Alpers-Huttenlocher syndrome. Neuropediatrics. 2011; 42(5): 194–196.
- Vitale G, Simonetti G, Pirillo M, et al. Bipolar and Related Disorders Induced by Sodium 4-Phenylbutyrate in a Male Adolescent with Bile Salt Export Pump Deficiency Disease. Psychiatry Investig. 2016; 13(5): 580–582.