Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency

Brain and Development

Volumn 30, Issue 5, 2008, Pages 370-373

  Takano, Kenichi ^a   Shimono, Masayuki ^a   Shiota, Naoki ^a   Kato, Ayako ^a   Tomioka, Shiho ^a   Oka, Akira ^b   Ohno, Kousaku ^b   Sathou, Higashi ^c  

^a UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c Department of Pediatrics   (Japan)

Author keywords

Blind; Deterioration; Electroretinogram; Infant; Neuronal ceroid lipofuscinosis; Palmitoyl protein thioesterase

Indexed keywords

PALMITOYL PROTEIN THIOESTERASE;

ADOLESCENT; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ELECTRORETINOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HEAD CIRCUMFERENCE; HUMAN; JAPAN; MYOCLONUS; NEUROIMAGING; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; PALMITOYL PROTEIN THIOESTERASE DEFICIENCY; QUADRIPLEGIA;

ADOLESCENT; ELECTROOCULOGRAPHY; FEMALE; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; NEURONAL CEROID-LIPOFUSCINOSES; THIOLESTER HYDROLASES; TOMOGRAPHY SCANNERS, X-RAY COMPUTED;

EID: 41749096116     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2007.09.008     Document Type: Article

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