Associated Papers
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
Glycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs, Cln3 Δex7-8 Mice, and CLN3-Affected Individuals.
Brudvig JJ et al.
Biomarker Insights, 2022
36212622 (PubMed )
Supplement: sj-xlsx-3-bmi-10.1177_11772719221107765.xlsx › Patient-Level_Plasma_Data
Novel CLN3 mutation causing autophagic vacuolar myopathy.
Cortese A et al.
Neurology, 2014
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS et al.
Journal of Inherited Metabolic Disease, 2011
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