Clinical Descriptions of MLD
- eMedicine - An excellent, easy to read MLD overview covering the clinical, diagnosis, treatment, progression, medication (none) & follow-up care for MLD family members. Sept. 2008
- NIH/GeneReveiws - Another well written and comprehensive MLD overview of MLD. Arvan Fluharty, UCLA, September Sept. 2008
- MEDLINEplus - Overview of MLD - National Inst Health, National Library of Medicine
- Online Mendelian Inheritance in Man (OMIM) - very detailed, thorough and technical
- University of Pittsburgh Research - easy to read - links to definitions of many technical terms
- Comprehensive & Detailed MLD Summary (~1995)
- Baylor College - Patient 37 with a good description of MLD
Research & Information About MLD
- Juvenile onset metachromatic leucodystrophy. Failure of response on a low vitamin A diet.
Archive of Diseases in Childhood, 1975 September; 50(9): 735–737. PMCID: PMC1545633
- Metachromatic leucodystrophy: review of 38 cases
Archive of Diseases in Childhood, 1982 March; 57(3): 168–175. PMCID: PMC1627607
- MR of childhood metachromatic leukodystrophy
American Journal of Neuroradiology, Vol 18, Issue 4 733-738, 1997
- Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations
American Journal of Neuroradiology, November 1, 2009; 30(10): 1893 - 1897
- Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature
Journal of Child Neurology, May 2010 vol. 25 no. 5 572-580
- Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy
Ann Neurol. 2008 November; 64(5): 583–587.
- Long-term Stabilization After Bone Marrow Transplantation in Juvenile Metachromatic Leukodystrophy
Arch Neurol. 1998;55:98-99
- Long-term Stabilization After Bone Marrow Transplantation in Juvenile Metachromatic Leukodystrophy
Archives of Neurology, 1998; 55:98-99
- Metachromatic leukodystrophy: an overview of current and prospective treatments
Bone Marrow Transplantation (2008) 42, S2–S6; doi:10.1038/bmt.2008.275
- Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy
Hum. Mol. Genet. (1 May 2005) 14 (9): 1139-1152.
- Late-onset metachromatic leukodystrophy
NEUROLOGY 2006;67:859-863
- PubMEd (NIH) Search for all MLD Articles
returns a list of thousands of articles
Other non-MLD Clinical Descriptions of Interest- University of Vermont - DISEASES OF THE MYELIN SHEATH
Medical Definitions & Research Labs, Additional Information
- Online Mendelian Inheritance in Man - very comprehensive and technical from the National Center for Biotechnology Information
- MEDLINEplus - National Inst Health, National Library of Medicine
- National Organization for Rare Disorders (NORD)
- Human Gene Mutation database - very technical
- Pediatrics Journal
- National Institute of Health - Office of Rare Disease clinical trial listing
- Centerwatch - clinical research overview and and clinical trials database - search for Metachromatic Leukodystrophy
- NINDS - National Institute of Neurological Disorders and Stroke
- National Organization for Rare Disorders (NORD)
- University of Vermont - DISEASES OF THE MYELIN SHEATH
Also See:
