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Leukoencephalopathy with vanishing white matter 1
- ... Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Nasu-Hakola disease National Organization for Rare Disorders ( ...
- ... More About This Health Condition KIAA0027 LVM megalencephalic leukoencephalopathy with subcortical cysts 1 gene product MLC MLC1_HUMAN VL Tests of ... regulated anion currents. Hum Mol Genet. 2013 Nov 1;22(21):4405-16. doi: ... leukoencephalopathy with subcortical cysts: an update and extended mutation ...
- ... Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy National ...
- ... leukoencephalopathy with subcortical cysts Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts National Organization for ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1; HDLS1 PubMed Ali ZS, Van Der Voorn JP, ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1; VWM1 PubMed Dietrich J, Lacagnina M, Gass D, ...
- ... Wszolek ZK. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011 Dec 25;44( ...
- ... E, Estevez R. Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. Neurogenetics. 2014 Mar;15(1):41-8. doi: 10.1007/s10048-013-0381- ...
- ... syndrome Oculogastrointestinal muscular dystrophy OGIMD POLIP Polyneuropathy, ophthalmoplegia, ... syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome 4b ...
- ... form Cerebroside sulphatase deficiency disease Greenfield disease Metachromatic leukoencephalopathy MLD Sulfatide lipidosis Sulfatidosis ... leukodystrophy National Organization for Rare Disorders ( ...