7 Molecular genetic testing for neuronal ceroid lipofuscinoses
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Elsevier
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1. Cln3 ‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome;Journal of Inherited Metabolic Disease;2019-05-14
2. Juvenile Neuronal Ceroid Lipofuscinoses;Advances in Experimental Medicine and Biology;2012
3. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease);Neurology;2011-10-19
4. A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: Identification and characterization of differentially expressed proteins;Journal of Chromatography B;2011-02-15
5. Diagnosis of the neuronal ceroid lipofuscinoses: An update;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2006-10
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