Infantile neuronal ceroid lipofuscinosis: No longer just a 'Finnish' disease

European Journal of Paediatric Neurology

Volumn 5, Issue SUPPL. A, 2001, Pages 47-51

  Hofmann, S L ^a   Das, A K ^a   Lu, J Y ^a   Wisniewski, K E ^a   Gupta, P ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Batten disease; Genotype phenotype correlations; Lysosomal storage disorders; Neuronal ceroid lipofuscinosis; Palmitoyl protein thioesterase

Indexed keywords

CLN 1 PROTEIN; CYSTEINE; FATTY ACID; FATTY ACYLCYSTEINE THIOESTER; GENE PRODUCT; LIPOFUSCIN; LYSOSOME ENZYME; PALMITOYL PROTEIN THIOESTERASE; PIGMENT; PROTEIN; THIOESTER; THIOL ESTER HYDROLASE; UNCLASSIFIED DRUG;

AGING; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOACCUMULATION; BRAIN; CHILD; CONTROLLED STUDY; CRYSTAL STRUCTURE; DEGENERATIVE DISEASE; DISEASE CLASSIFICATION; DISEASE SEVERITY; ENZYME DEFECT; ENZYME DEFICIENCY; EVALUATION; FINLAND; FLUORESCENCE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; LYSOSOME STORAGE DISEASE; MOUSE; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; SCANDINAVIA; STORAGE; THERAPY;

EID: 0034912181     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2000.0434     Document Type: Article

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