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The New England journal of medicine, ISSN 0028-4793, 05/2019, Volume 380, Issue 21, pp. 2080 - 2080
Journal Article
Journal Article
Časopis lékařů českých, ISSN 0008-7335, 2018, Volume 157, Issue 3, pp. 133 - 136
Journal Article
Kidney international reports, ISSN 2468-0249, 12/2020, Volume 5, Issue 12, pp. 2133 - 2135
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Errors of metabolism | Medical genetics | Biological and medical sciences | Metabolic diseases | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | Neurons - pathology | Humans | Molecular Sequence Data | Male | Neuronal Ceroid-Lipofuscinoses - pathology | Brain - metabolism | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Neurons - ultrastructure | Base Sequence | Brain - ultrastructure | Adult | Female | Neurons - metabolism | Genetic Linkage | Gene Dosage - genetics | HSP40 Heat-Shock Proteins - genetics | Lipoylation | Membrane Proteins - genetics | Gene Expression Regulation | Exons - genetics | Mutation - genetics | Sequence Analysis, DNA | Protein Transport | Lysosomes - ultrastructure | Pedigree | Age of Onset | Brain - pathology | Family | Genes, Dominant - genetics | Neuronal Ceroid-Lipofuscinoses - epidemiology | Chromosome Segregation - genetics | Neuronal ceroid-lipofuscinosis | Usage | Linkage (Genetics) | Analysis | Causes of | Genetic aspects | Diagnosis | Nucleotide sequencing | Gene expression | Proteins | Mutation | Tissues | Cells | Neurological disorders | Index Medicus | Neuroprotection | Deposits | Neurodegenerative diseases | Amino acids | Peptide mapping | Protein folding | Neuronal ceroid lipofuscinosis | Gene mapping | Protein interaction | Age | Linkage analysis
Journal Article