Пиридоксин-зависимая эпилепсия (Russian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Пиридоксин-зависимая эпилепсия" in Russian language version.

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archive.org

doi.org

doi.org

  • Coughlin CR, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JL, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, Van Karnebeek CD (January 2021). "Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency". Journal of Inherited Metabolic Disease. 44 (1): 178–192. doi:10.1002/jimd.12332. PMID 33200442.
  • Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C (May 2009). "Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy". Annals of Neurology. 65 (5): 550–6. doi:10.1002/ana.21568. PMID 19142996.
  • Kaminiów K, Pająk M, Pająk R, Paprocka J (December 2021). "Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures". Brain Sciences. 12 (1). doi:10.3390/brainsci12010065. PMC 8773593. PMID 35053812.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
  • Messina M, Manea E, Cullup T, Tuschl K, Batzios S (January 2023). "Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid". JIMD Reports. 64 (1): 42–52. doi:10.1002/jmd2.12347. PMC 9830023. PMID 36636587.

dx.doi.org

  • Cosnahan A. S., Campbell C. T. Inborn Errors of Metabolism in Pediatric Epilepsy // The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG. — 2019. — Т. 24, № 5. — С. 398—405. — doi:10.5863/1551-6776-24.5.398. — PMID 31598103. — PMC 6782122.

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Coughlin CR, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JL, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, Van Karnebeek CD (January 2021). "Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency". Journal of Inherited Metabolic Disease. 44 (1): 178–192. doi:10.1002/jimd.12332. PMID 33200442.
  • Gospe, SM (Dec 7, 2001). "Pyridoxine-Dependent Epilepsy". GeneReviews. PMID 20301659. Архивировано 2022-01-19. Дата обращения: June 03, 2022. {{cite journal}}: Проверьте значение даты: |accessdate= (справка)
  • Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C (May 2009). "Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy". Annals of Neurology. 65 (5): 550–6. doi:10.1002/ana.21568. PMID 19142996.
  • Kaminiów K, Pająk M, Pająk R, Paprocka J (December 2021). "Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures". Brain Sciences. 12 (1). doi:10.3390/brainsci12010065. PMC 8773593. PMID 35053812.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
  • Messina M, Manea E, Cullup T, Tuschl K, Batzios S (January 2023). "Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid". JIMD Reports. 64 (1): 42–52. doi:10.1002/jmd2.12347. PMC 9830023. PMID 36636587.

ncbi.nlm.nih.gov

web.archive.org