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2011, 2nd ed., Contemporary neurology series, ISBN 019959001X, Volume 78, xxx, 444
Book
Developmental Medicine & Child Neurology, ISSN 0012-1622, 08/2017, Volume 59, Issue 8, pp. 777 - 778
This commentary is on the original article by Simonati et al. on pages 815–821 of this issue. 
PEDIATRICS | CLINICAL NEUROLOGY | MUTATIONS | Membrane Proteins | Humans | Neuronal Ceroid-Lipofuscinoses | Index Medicus
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 10/2015, Volume 1852, Issue 10, pp. 2235 - 2236
Journal Article
Neurology, ISSN 0028-3878, 07/2012, Volume 79, Issue 2, pp. 183 - 191
Journal Article
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 8, pp. 749 - 751
  The disease course also seemed to be slower than without the drugs when compared with older untreated siblings and historical studies, especially in terms of... 
Neurology | CLINICAL NEUROLOGY | NEURONAL CEROID-LIPOFUSCINOSIS | Neuronal Ceroid-Lipofuscinoses - drug therapy | Humans | Female | Male | Acetylcysteine - administration & dosage | Neuronal Ceroid-Lipofuscinoses - diagnosis | Cysteamine - administration & dosage | Cells | Mutation | Drug therapy | Stem cells | Colleges & universities | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 07/2019
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of... 
Index Medicus
Journal Article
1999, Biomedical and health research, ISBN 9051994818, Volume 33., xiv, 197
Book
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 566 - 573
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 11/2013, Volume 1832, Issue 11, pp. 1793 - 1794
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S71 - S71
Journal Article
Molecular BioSystems, ISSN 1742-206X, 2011, Volume 7, Issue 4, p. 1349
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S97 - S97
Journal Article
Journal Article
Molecular therapy : the journal of the American Society of Gene Therapy, ISSN 1525-0016, 05/2018, Volume 26, Issue 5, p. 1343
Journal Article
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