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Results 1 - 10 of 17 for Leukoencephalopathy with vanishing white matter 5
  1. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts.Approximately 5 percent of people with megalencephalic leukoencephalopathy with subcortical ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  2. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 
    ... Wegner A, Sriram S, Pawate S. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol. 2013 ...
    https://medlineplus.gov/...-with-axonal-spheroids-and-pigmented-glia - Genetics
  3. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. doi: 10.1002/ana.20280. Citation ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  4. RNAse T2-deficient leukoencephalopathy 
    ... Lenard HG, Aksu F, Gartner J. A new leukoencephalopathy with bilateral anterior temporal lobe cysts. Neuropediatrics. 1998 Oct;29(5):225-8. doi: 10.1055/s-2007-973566. ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - 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 ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  6. TUBB4A-related leukodystrophy 
    ... the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013. ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  7. Leukoencephalopathy with vanishing white matter 
    ... EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter.The EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 genes provide instructions for making the five parts (subunits) of a protein called eIF2B. The ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  8. CLCN2-related leukoencephalopathy 
    ... His590Pro) is associated with a subclinical form of leukoencephalopathy with ... Front Physiol. 2014 Oct 7;5:378. doi: 10.3389/fphys.2014.00378. eCollection ...
    https://medlineplus.gov/.../clcn2-related-leukoencephalopathy - Genetics
  9. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 
    ... Cerebral autosomal dominant arteriopathy with subcortical infarcts and ... ligand. Circ Res. 2002 Mar 22;90(5):506-8. doi: 10.1161/01.res.0000013796. ...
    https://medlineplus.gov/...cortical-infarcts-and-leukoencephalopathy - Genetics
  10. 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
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