Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL

Pediatric Neurology

Volumn 18, Issue 2, 1998, Pages 119-123

  Wisniewski, Krystyna E ^a   Connell, Fred ^a   Kaczmarski, Wojciech ^a   Kaczmarski, Aleksandra ^a   Siakotos, Aristotle ^b   Becerra, Carlos R ^c   Hofmann, Sandra L ^c  

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

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

THIOL ESTER HYDROLASE;

ARTICLE; BLINDNESS; CHILD; CLINICAL FEATURE; DEMENTIA; ELECTRON MICROSCOPY; ENZYME DEFICIENCY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MOTOR DYSFUNCTION; NERVE BIOPSY; NEURONAL CEROID LIPOFUSCINOSIS; PATHOGENESIS; PRIORITY JOURNAL; SEIZURE;

EID: 0032007076     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(97)00173-2     Document Type: Article

References (29)

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