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Czasopismo

2020 | 79 | 2 |

Tytuł artykułu

Considerations on the management of pyruvate dehydrogenase deficiency

Autorzy

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN

Słowa kluczowe

Wydawca

-

Czasopismo

Rocznik

Tom

79

Numer

2

Opis fizyczny

p.415-416,ref.

Twórcy

autor
  • Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria

Bibliografia

  • 1. 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), doi: 10.3390/nu12020333, indexed in Pubmed: 32012661.
  • 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, doi: 10.1016/j.ymgme.2012.09.001, indexed in Pubmed: 23021068.
  • 3. Ebertowska A, Ludkiewicz B, Klejbor I, et al. Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment. Folia Morphol. 2020; 79(2): 191–197, doi: 10.5603/FM.a2020.0020, indexed in Pubmed: 32073132.
  • 4. Finsterer J, Frank M. low-glycemic-index diet relieving migraine but inducing muscle cramps. J Neurosci Rural Pract. 2019; 10(3): 552–554, doi: 10.1055/s-0039-1698034, indexed in Pubmed: 31595134.
  • 5. 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, doi: 10.1517/17425255.2012.644535, indexed in Pubmed: 22149023.
  • 6. 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, doi: 10.1111/j.1469-8749.2011.04151.x, indexed in Pubmed: 22142326.
  • 7. 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, doi: 10.1111/iep.12190, indexed in Pubmed: 27381898.
  • 8. 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, doi: 10.1016/j.nut.2017.04.003, indexed in Pubmed: 28760433.
  • 9. Kaufmann P, Engelstad K, Wei Y, et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, con trolled clinical trial. Neurology. 2006; 66(3): 324–330, doi: 10.1212/01.wnl.0000196641.05913.27, indexed in Pubmed: 16476929.
  • 10. 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, doi: 10.1007/s004310051222, indexed in Pubmed: 10486093.
  • 11. 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, doi: 10.1021/acs.jproteome.9b00581, indexed in Pubmed: 31696714.
  • 12. 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, indexed in Pubmed: 16532126.
  • 13. Spiegler J, Stefanova I, Hellenbroich Y, et al. Bowel obstruction in patients with Alpers-Huttenlocher syndrome. Neuropediatrics. 2011; 42(5): 194–196, doi: 10.1055/s0031-1287812, indexed in Pubmed: 22006280.
  • 14. 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, doi: 10.4306/pi.2016.13.5.580, indexed in Pubmed: 27757140.

Typ dokumentu

Bibliografia

Identyfikatory

Identyfikator YADDA

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