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Results 1 - 10 of 12 for Leukoencephalopathy with vanishing white matter 4
  1. CLCN2-related leukoencephalopathy 
    ... Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations. Eur Neurol. 2017;78(3-4):125-127. doi: 10.1159/000478089. Epub 2017 ...
    https://medlineplus.gov/.../clcn2-related-leukoencephalopathy - Genetics
  2. RNAse T2-deficient leukoencephalopathy 
    ... Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016. ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  3. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... Knaap MS. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
  4. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 
    ... identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4. Citation on PubMed Nicholson AM, Baker MC, Finch ...
    https://medlineplus.gov/...-with-axonal-spheroids-and-pigmented-glia - Genetics
  5. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... Prokisch H, van der Knaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4. Citation on PubMed Taskin BD, Karalok ZS, Gurkas ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  6. Leukoencephalopathy with vanishing white matter 
    Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  7. Metachromatic leukodystrophy 
    ... form Cerebroside sulphatase deficiency disease Greenfield disease Metachromatic leukoencephalopathy MLD Sulfatide lipidosis Sulfatidosis Genetic Testing Registry: Metachromatic ...
    https://medlineplus.gov/.../condition/metachromatic-leukodystrophy - Genetics
  8. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of ... syndrome Oculogastrointestinal muscular dystrophy OGIMD POLIP Polyneuropathy, ophthalmoplegia, leukoencephalopathy, ... Genetic ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  9. Hypomyelination and congenital cataract 
    ... one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. ... J Hum Genet. 2008 Feb;16(2):261-4. doi: 10.1038/sj.ejhg.5201935. Epub 2007 ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  10. Coats plus syndrome 
    ... spots.Coats plus syndrome and a disorder called leukoencephalopathy with calcifications and cysts (LCC; also called Labrune ... syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and ...
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
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