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2020, Number 2

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Rev Cub Gen 2020; 13 (2)

Over 100 years of evolution in the field of inborn errors of metabolism

Camayd VI

Language: Spanish
References: 11
Page: 1-6
PDF size: 204.64 Kb.


Text Extraction

No abstract.


REFERENCES

  1. Arnold GL. Inborn errors of metabolism in the 21(st) century: past to present. Annals of translational medicine. 2018 [acceso 07/11/2019];6(24):467. Disponible en: https://10.21037/atm.2018.11.36

  2. Morava E, Rahman S, Peters V, Baumgartner MR, Patterson M, Zschocke J. Quo vadis: the re-definition of “inborn metabolic diseases”. Journal of inherited metabolic disease. 2015 [acceso 07/11/2019];38(6):1003-6. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/26420281.

  3. Kruszka P, Regier D. Inborn errors of metabolism: from preconception to adulthood. American family physician. 2019 [acceso 18/02/2020];99(1):25-32. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/30600976

  4. Ferreira CR, van Karnebeek CDM, Vockley J, Blau N. A proposed nosology of inborn errors of metabolism. Genetics in medicine: official journal of the American College of Medical Genetics. 2019 [acceso 18/02/2020];21(1):102-6. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/29884839

  5. Saudubray JM, Mochel F, Lamari F, Garcia-Cazorla A. Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians. Journal of inherited metabolic disease. 2019 [acceso 10/12/2019];42(4):706-27. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/30883825

  6. Waters D, Adeloye D, Woolham D, Wastnedge E, Patel S, Rudan I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. Journal of global health. 2018 [acceso 22/02/2020];8(2):021102. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/30479748

  7. Mak CM, Lee HC, Chan AY, Lam CW. Inborn errors of metabolism and expanded newborn screening: review and update. Critical reviews in clinical laboratory sciences. 2013 [acceso 22/02/2020];50(6):142-62. Disponible en: https://10.3109/10408363.2013.847896

  8. Sweetman L, Millington DS, Therrell BL, Hannon WH, Popovich B, Watson MS, et al. Naming and counting disorders (conditions) included in newborn screening panels. Pediatrics. 2006 [acceso 22/02/2020];117(5 Pt 2):S308-14. Disponible en: https://10.1542/peds.2005-2633J

  9. Marcheco B. Cuba's National Medical Genetics Program. MEDICC review. 2009 [acceso 24/05/2019];11(1):11-3. Disponible en: https://mediccreview.org/wp-content/uploads/2018/03/mr_71.pdf

  10. González Reyes EC, Castells EM, Frómeta A, Arteaga AL, Del Río L, Tejeda Y, et al. SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba:An Overview of the First 30 Years. Journal of Inborn Errors of Metabolism and Screening. 2016 [acceso: 12/08/2019];4:1-9. Disponible en: https://journals.sagepub.com/doi/abs/10.1177/2326409816661356

  11. González EC, Frómeta A, del Río L, Castells E, Robaina MS, García SM, et al. Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test. Clinica chimica acta; international journal of clinical chemistry. 2009 [acceso 22/02/2020];402(1-2):129-32. Disponible en: https://10.1016/j.cca.2008.12.039




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