The diagnostic value of ultrastructural studies of skin-punch biopsies and buffy coat for the early diagnosis of some neurodegenerative diseases.
D000293:Adolescent; D000328:Adult; D001706:Biopsy / Q000379:methods; D002648:Child; D002675:Child, Preschool; D005347:Fibroblasts / Q000648:ultrastructure; D006008:Glycogen Storage Disease / Q000175:diagnosis; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D008064:Lipidoses / Q000175:diagnosis; D008214:Lymphocytes / Q000648:ultrastructure*; D008247:Lysosomes / Q000201:enzymology; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000473:pathology; D009083:Mucopolysaccharidoses / Q000175:diagnosis; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis; D012867:Skin / Q000648:ultrastructure*