Leucodistrofia metacromática

Por el personal de Mayo Clinic
05 de septiembre de 2026

Investigación

En Mayo Clinic, los investigadores de enfermedades hereditarias (genética médica), enfermedades del sistema nervioso (neurología) y otras especialidades estudian las causas, las pruebas de diagnóstico y los posibles tratamientos para la leucodistrofia metacromática y otras enfermedades.

Publicaciones

Consulte en PubMed una lista de publicaciones sobre leucodistrofia metacromática escritas por los médicos de Mayo Clinic. PubMed es un servicio de la National Library of Medicine (Biblioteca Nacional de Medicina).

  1. Metachromatic leukodystrophy. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy. Accessed Oct. 24, 2019.
  2. Helman G, et al. Disease specific therapies in leukodystrophies and leukoencephalopathies. Molecular Genetics and Metabolism. 2015; doi:10.1016/j.ymgme.2015.01.014.
  3. Metachromatic leukodystrophy. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/metachromatic-leukodystrophy?query=Metachromatic%20Leukodystrophy. Accessed Oct. 24, 2019.
  4. Van Rappard DF, et al. Slowly progressive psychiatric symptoms: Think metachromatic leukodystrophy. Journal of the American Academy of Child and Adolescent Psychiatry. 2018; doi:10.1016/j.jaac.2017.11.017.
  5. Metachromatic leukodystrophy information page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Metachromatic-Leukodystrophy-Information-Page. Accessed Oct. 24, 2019.
  6. Neurological diagnostic tests and procedures fact sheet. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Neurological-Diagnostic-Tests-and-Procedures-Fact. Accessed Oct. 24, 2019.
  7. de Oliveira Poswar F, et al. Lysosomal diseases: Overview on current diagnosis and treatment. Genetics and Molecular Biology. 2019; doi:10.1590/1678-4685-GMB-2018-0159.
  8. Beck M. Treatment strategies for lysosomal storage disorders. Developmental Medicine and Child Neurology. 2018; doi:10.1111/dmcn.13600.
  9. Rosenberg JB, et al. Gene therapy for metachromatic leukodystrophy. Journal of Neuroscience Research. 2016; doi:10.1002/jnr.23792.
  10. Adang LA, et al. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Molecular Genetics and Metabolism. 2017; doi:10.1016/j.ymgme.2017.08.006.
  11. Brown A. Allscripts EPSi. Mayo Clinic. July 26, 2019.
  12. Harrington M, et al. Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: Development of the Caregiver Impact Questionnaire. Journal of Patient-Reported Outcomes. 2019; doi:10.1186/s41687-019-0140-3.
  13. Medical review (expert opinion). Mayo Clinic. Feb. 2, 2020.