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Нарушения обмена галактозы (Галактоземия)

Список литературы

  1. Волгина С.Я., Асанов А.Ю., Соколов А.А. Современные аспекты диагностики, лечения и наблюдения детей с галактоземией I типа. Российский вестник перинатологии и педиатрии. 2015;60(5):179-187.
  2. Hegarty R, Hadzic N, Gissen P, Dhawan A. Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience. Eur J Pediatr. 2015 Apr 24.
  3. Porta F, Pagliardini S, Pagliardini V, Ponzone A, Spada M. Newborn screening for galactosemia: a 30-year single center experience. World J Pediatr. 2015 May;11(2):160-4.
  4. Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL. Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. JIMD Rep. 2015;15:79-93.
  5. Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Newborn screening for galactosaemia. Cochrane Database Syst Rev. 2017 Dec 23;12:CD012272
  6. M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, et al. The natural history of classic galactosemia: lessons from the GalNet registry Orphanet J Rare Dis. 2019; 14: 86
  7. Welling, L., Bernstein, L. E., Berry, G. T., Burlina, A. B., Eyskens, F., Bosch, A. M. (2016). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of Inherited Metabolic Disease, 2017;40(2), 171–176. doi:10.1007/s10545-016-9990-5
  8. Akar M, Celik M, Kasapkara CS, Ozbek MN, Aldudak B, Tuzun H. Mutational analysis of the galactose-1-phosphate uridyltransferase (GALT) gene in southeast part of Turkey: a regional report. Genet Couns. 2015;26(1):91-4.
  9. Timmers I, van den Hurk J, Hofman PA, Zimmermann LJ, Uludağ K, Jansma BM, Rubio-Gozalbo ME. Affected functional networks associated with sentence production in classic galactosemia. Brain Res. 2015 Aug 7;1616:166-76.
  10. Liu Y, Sidhu A, Bean LH, Conway RL, Fridovich-Keil JL. Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia. Clin Chim Acta. 2015 Jun 15;446:171-4.
  11. 1Coelho AI, Trabuco M, Ramos R, Silva MJ, Tavares de Almeida I, Leandro P, Rivera I, Vicente JB. Functional and structural impact of the most prevalent missense mutations in classic galactosemia. Mol Genet Genomic Med. 2014 Nov;2(6):484-96.
  12. Özbek MN, Öcal M, Tanrıverdi S, Baysal B, Deniz A, Öncel K, Demirbilek H. Capillary bedside blood glucose measurement in neonates: missing a diagnosis of galactosemia. J Clin Res Pediatr Endocrinol. 2015 Mar 5;7(1):83-5.
  13. MP 2.3.1.2432-08 "Нормы физиологических потребностей в энергии и пищевых веществах для различных групп населения Российской Федерации" (утв. Главным государственным санитарным врачом РФ 18 декабря 2008 г.).
  14. van Erven B, Römers MM, Rubio-Gozalbo ME. Revised proposal for the prevention of low bone mass in patients with classic galactosemia.JIMD Rep. 2014;17:41-6.
  15. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. 2000 Feb 4 [Updated 2021 Mar 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993- 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1518/
  16. Carney AE, Sanders RD, Garza KR, McGaha LA, Bean LJ, Coffee BW, Thomas JW, Cutler DJ, Kurtkaya NL, Fridovich-Keil JL. Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. Hum Mol Genet. 2009;18:1624–32
  17. Sangiuolo F, Magnani M, Stambolian D, Novelli G. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004 Apr;23(4):396. doi: 10.1002/humu.9223. PMID: 15024738
  18. Therrell BL Jr., Lloyd-Puryear MA, Camp KM, Mann MY . Inborn errors of metabolism identified via newborn screening: ten-year incidence data and costs of nutritional interventions for research agenda planning. Mol Genet Metab 2014;113:14–26.
  19. Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Monch E, Klein J . Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. J Inherit Metab Dis 2011;34:399–407.
  20. Fridovich-Keil J, Bean L, He M, et al. Epimerase Deficiency Galactosemia. 2011 Jan 25 [Updated 2021 Mar 4]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993- 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK51671/
  21. Collip P,JDonnell G.N. Galactosemia presenting gangrene.-J.Pediatr 1959; 54:363
  22. Belman A.L., Moshe S.L., Zimmermman R.D. Computerised tomographic demostrtion of cerebral edeme in a child with galactosemia. Pediatrics 1986;78:606
  23. Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Duarte variant galactosemia. 2014 Dec 4. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993–2018. Available from:. http://www.ncbi.nlm.nih.gov/books/NBK258640/PubMed. PMID: 25473725.
  24. Stambolian D, Scarpino-Myers V, Eagle RC Jr, Hodes B, Harris H. Cataracts in patients heterozygous for galactokinase deficiency. Invest Ophthalmol Vis Sci. 1986 Mar;27(3):429-33. PMID: 3949470.
  25. Novelli G, Reichardt JK. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab. 2000 Sep-Oct;71(1-2):62-5. doi: 10.1006/mgme.2000.3073. PMID: 11001796.
  26. Gulsuner S, Pierce S, Ben-Harosh M, Shalev H, Walsh T, Krasnov T, Dgany O, Doulatov S, Tamary H, Shimamura A, King MC. Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE). Hum Mol Genet. 2019 Jan 1;28(1):133-142. doi: 10.1093/hmg/ddy334.
  27. Sokol RJ, McCabe ER, Kotzer AM, Langendoerfer SI . Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion. J Pediatr Gastroenterol Nutr 1989;8:266–268
  28. Lai K, Langley SD, Dembure PP, Hjelm LN, Elsas LJ 2nd . Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts. Hum Mutat 1998;11:28–38.
  29. Walter JH, Collins JE, Leonard JV. Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group. Arch Dis Child. 1999 Jan;80(1):93-6
  30. Sabatino JA, Starin D, Tuchman S, Ferreira C, Regier DS. Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula. JIMD Rep. 2019 Jun 21;49(1):7-10
  31. Staubach S, Pekmez M, Hanisch FG. Differential Proteomics of Urinary Exovesicles from Classical Galactosemic Patients Reveals Subclinical Kidney Insufficiency. J Proteome Res. 2016 Jun 3;15(6):1754-61
  32. Shi X, Chabarek K, Budai A, Zhu Z. Iron requirement for GAL gene induction in the yeast Saccharomyces cerevisiae. J Biol Chem. 2003 Oct 31;278(44):43110-3
  33. Hala T. El-Bassyouni , Adel M. Ashour , Afaf Ezzat , Randa Bassiouni and Ekram M. Fateen , 2006. The Effect of Diet on Antioxidant Status in Patients with Galactosemia. Journal of Medical Sciences, 6: 452-457
  34. Henderson H, Leisegang F, Brown R, Eley B. The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. BMC Pediatr. 2002 Sep 2;2:7
  35. Kotb MA, Mansour L, William Shaker Basanti C, El Garf W, Ali GIZ, Mostafa El Sorogy ST, Kamel IEM, Kamal NM. Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt. J Adv Res. 2018 Feb 23;12:39-45. doi: 10.1016/j.jare.2018.02.001. PMID: 30038819; PMCID: PMC6054589.
  36. Delnoy B, Coelho AI, Rubio-Gozalbo ME. Current and Future Treatments for Classic Galactosemia. J Pers Med. 2021 Jan 28;11(2):75. doi: 10.3390/jpm11020075. PMID: 33525536; PMCID: PMC7911353.
  37. Thakur M, Feldman G, Puscheck EE. Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities. J Assist Reprod Genet. 2018 Jan;35(1):3-16. doi: 10.1007/s10815-017-1039-7. Epub 2017 Sep 20. PMID: 28932969; PMCID: PMC5758462.
  38. Mamsen LS, Kelsey TW, Ernst E, Macklon KT, Lund AM, Andersen CY. Cryopreservation of ovarian tissue may be considered in young girls with galactosemia. J Assist Reprod Genet. 2018 Jul;35(7):1209-1217. doi: 10.1007/s10815-018-1209-2. Epub 2018 May 26. PMID: 29804175; PMCID: PMC6063818.
  39. Faix, J. D. (2013). Biomarkers of sepsis. Critical Reviews in Clinical Laboratory Sciences, 50(1), 23–36. doi:10.3109/10408363.2013.764490
  40. Faix, J. D. (2013). Biomarkers of sepsis. Critical Reviews in Clinical Laboratory Sciences, 50(1), 23–36. doi:10.3109/10408363.2013.764490
  41. Burton, B. K. (1998). Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis. PEDIATRICS, 102 (6), e69–e69. doi:10.1542/peds.102.6.e69
  42. Ono, H., Mawatari, H., Mizoguchi, N., Eguchi, T., Sakura, N., & Hamakawa, M.
  43. (2000). Delay of liver maturation as a cause of transient neonatal galactosemia. Pediatrics International, 42(1), 61–63. doi:10.1046/j.1442-200x.2000.01181.x
  44. Shaw, K. A., Mulle, J. G., Epstein, M. P., & Fridovich-Keil, J. L. (2016). Gastrointestinal Health in Classic Galactosemia. JIMD Reports, Volume 33, 27–32. doi:10.1007/8904_2016_575
  45. Jumbo-Lucioni, P. P., Garber, K., Kiel, J., Baric, I., Berry, G. T., Bosch, A., … Fridovich-Keil, J. L. (2012). Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. Journal of Inherited Metabolic Disease, 35(6), 1037–1049. doi:10.1007/s10545-012-9477-y
  46. Welsink-Karssies MM, Ferdinandusse S, Geurtsen GJ, Hollak CEM, Huidekoper HH, Janssen MCH, Langendonk JG, van der Lee JH, O'Flaherty R, Oostrom KJ, Roosendaal SD, Rubio-Gozalbo ME, Saldova R, Treacy EP, Vaz FM, de Vries MC, Engelen M, Bosch AM. Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers. Brain Commun. 2020 Jan 29;2(1)
  47. Demirbas, D., Coelho, A. I., Rubio-Gozalbo, M. E., & Berry, G. T. (2018). Hereditary galactosemia. Metabolism, 83, 188–196. doi:10.1016/j.metabol.2018.01.025 https://pubmed.ncbi.nlm.nih.gov/29409891/
  48. https://my.qiagendigitalinsights.com/bbp/view/hgmd/pro/all.php
  49. EAU Guidelines. Edn. presented at the EAU Annual Congress Amsterdam 2020. ISBN 978-94-92671-07-3. EAU Guidelines Office, Arnhem, The Netherlands. http://uroweb.org/guidelines/compilations-of-all-guidelines/
  50. Kingsley, J. D., Varman, M., Chatterjee, A., Kingsley, R. A., & Roth, K. S. (2006). Immunizations for Patients With Metabolic Disorders. PEDIATRICS, 118(2), e460– e470. doi:10.1542/peds.2005-1257
  51. Alves-Bezerra M, Cohen DE. Triglyceride Metabolism in the Liver. Compr Physiol. 2017 Dec 12;8(1):1-8
  52. Nishimura Y, Tajima G, Dwi Bahagia A, Sakamoto A, Ono H, Sakura N, Naito K, Hamakawa M, Yoshii C, Kubota M, Kobayashi K, Saheki T. Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of
  53. portal vein imaging. J Inherit Metab Dis. 2004;27(1):11-8. doi: 10.1023/B:BOLI.0000016621.29854.d6
  54. Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E. Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis. 2011 Apr;34(2):357-66

 

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