Tests and diagnosis
Eye exam — Overview covers definition, what to expect and results of vision testing.
Genetic testing is used to detect altered genes that may cause illness or disease. Although genetic testing can offer important health information, it has limitations.
MRI uses a magnetic field and radio waves to create detailed images of the organs and tissues within your body.
Find out what you can expect during a skin biopsy.
June 03, 2014
- Miranda CO, et al. Advances and pitfalls of cell therapy in metabolic leukodystrophies. Cell Transplantation. 2013;22:189.
- Pagon RA, et al. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1238/. Accessed Feb. 28, 2014.
- Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/krabbe-disease. Accessed Feb, 28. 2014.
- Ropper AH, et al. Adams & Victor's Principles of Neurology. 9th ed. New York, N.Y.: The McGraw-Hill Companies; 2009. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=54. Accessed March 3, 2011.
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain & Development. 2009;31:485.
- Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): Update. Journal of Child Neurology. 2003;18:595.
- Krabbe disease. United Leukodystrophy Foundation. http://ulf.org/krabbe-disease. Accessed Feb. 28, 2014.
- Kohlschutter A, et al. Childhood leukodystrophies: A clinical perspective. Expert Review of Neurotherapeutics. 2011;11:1485.
- National newborn screening status report. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/sites/genes-r-us/files/nbsdisorders.pdf. Accessed March 10, 2014.
- Duffner PK, et al. Early infantile Krabbe disease: Results of the World-Wide Krabbe Registry. Pediatric Neurology 2011;45:141.
- Kemper AR, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genetics in Medicine: Official Journal of the American College of Medical Genetics. 2010;12:539.
- Duffner PK, et al. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genetics in Medicine. 2009;11:450.
- Renaud DL (expert opinion). Mayo Clinic, Rochester, Minn. April 1, 2014.
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