Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population

Journal of Neurology

Volumn 250, Issue 6, 2003, Pages 661-667

  Teixeira, Carla ^a,b   Guimarães, António ^c,d   Bessa, Carlos ^a   Ferreira, Maria José ^d   Lopes, Lurdes ^a,e   Pinto, Eugénia ^a,e   Pinto, Rui ^a,e   Boustany, Rose Mary ^b   Sá Miranda, Maria Clara ^a,e   Ribeiro, Maria Gil ^a,e  

^a UNIVERSITY OF PORTO   (Portugal)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^d UNIVERSITY OF PORTO   (Portugal)

^e NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

Batten disease; Genetic epidemiology; Lysosomal storage disorders; Neuronal ceroid lipofuscinosis

Indexed keywords

COMPLEMENTARY DNA;

ADOLESCENT; ALLELE; ARTICLE; CHILD; CHILDHOOD DISEASE; DNA SEQUENCE; GENE DELETION; GENE MUTATION; GENETIC EPIDEMIOLOGY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LYSOSOME STORAGE DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; PORTUGAL; PREVALENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENDOPEPTIDASES; FEMALE; FIBROBLASTS; GENETICS, POPULATION; HUMANS; LINKAGE (GENETICS); LYSOSOMES; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE; PEPTIDE HYDROLASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORTUGAL; RETROSPECTIVE STUDIES; SKIN; SWEAT GLANDS; VARIATION (GENETICS);

EID: 0037782047     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-003-1050-z     Document Type: Article

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