Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency

Molecular Genetics and Metabolism

Volumn 66, Issue 4, 1999, Pages 234-239

  Hofmann, Sandra L ^a   Das, Amit K ^a   Yi, Won ^a   Lu, Jui Yun ^a   Wisniewski, Krystyna E ^b,c  

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

^b NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^c SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

Infantile neuronal ceroid lipofuscinoses; Lysosomal storage disorders; Molecular genetics; Thiolester hydrolases

Indexed keywords

CEROID; LIPOFUSCIN; PALMITOYL PROTEIN THIOESTERASE;

CLINICAL FEATURE; CONFERENCE PAPER; GENE MUTATION; GENOTYPE; HUMAN; LYSOSOME STORAGE DISEASE; MOLECULAR GENETICS; NEURONAL CEROID LIPOFUSCINOSIS; PHENOTYPE; PRIORITY JOURNAL; UNITED STATES;

EID: 0032798744     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2803     Document Type: Conference Paper

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