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Results 1 - 10 of 18 for Leukoencephalopathy with vanishing white matter 3
  1. 3-methylglutaconyl-CoA hydratase deficiency 
    ... deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood.All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  2. 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 ...
    https://medlineplus.gov/.../clcn2-related-leukoencephalopathy - Genetics
  3. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... only mild to moderate intellectual disability.There are three types of megalencephalic leukoencephalopathy with subcortical cysts, which are distinguished by their ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  4. RNAse T2-deficient leukoencephalopathy 
    ... MM, Lin J, Masruha MR, Vilanova LC. Cystic leukoencephalopathy without megalencephaly. Arq Neuropsiquiatr. 2008 Jun;66(2A):261-3. doi: 10.1590/s0004-282x2008000200027. No abstract available. ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  5. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... van der Knaap MS, Vanderver A. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology. 2015 Jan 20;84(3):226-30. doi: 10.1212/WNL.0000000000001157. Epub ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  6. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 
    ... Morishita S, Tsuji S. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 ...
    https://medlineplus.gov/...-with-axonal-spheroids-and-pigmented-glia - Genetics
  7. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... Wanders RJ, Trefz FK, Melms A. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  8. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a disorder that affects the brain. ... phosphorylation deficiency 12 COXPD12 LTBL Genetic Testing Registry: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukoencephalopathy ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  9. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. " ...
    https://medlineplus.gov/...lasia-with-sclerosing-leukoencephalopathy - Genetics
  10. Leukoencephalopathy with vanishing white matter 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nat Med. 2005 Mar;11(3):277-83. doi: 10.1038/nm1195. Epub 2005 ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
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