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Neuronal ceroid lipofuscinosis 5
- ... Jansky-Bielschowsky disease Late-infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis, late-infantile VLINCL Genetic Testing ...
- ... R, Martinez-Bermejo A, Pineda Marfa M. Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. J Inherit Metab Dis. 2011 Oct;34(5):1083-93. doi: 10.1007/s10545-011-9323- ...
- ... the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5. Citation on PubMed Williams RE, Mole SE. New ...
- ... are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5. Citation on PubMed Sharifi A, Kousi M, Sagne ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... in DNAJC5 cause autosomal dominant Kufs disease. Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020. Epub 2012 Nov ...