Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study report. [electronic resource]
Producer: 20010607Description: 51-8 p. digitalISSN:- 0191-3123
- Ceroid
- Child
- Child, Preschool
- Cytoplasmic Granules -- ultrastructure
- DNA Mutational Analysis
- Female
- Humans
- Infant
- Infant, Newborn
- Lipofuscin
- Lymphocytes -- enzymology
- Lysosomal Storage Diseases, Nervous System
- Lysosomes -- ultrastructure
- Male
- Membrane Proteins -- genetics
- Neuronal Ceroid-Lipofuscinoses -- genetics
- Neurons -- ultrastructure
- Polymerase Chain Reaction
- RNA -- analysis
- Thiolester Hydrolases
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Publication Type: Journal Article
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