Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)

Molecular Genetics and Metabolism

Volumn 83, Issue 1-2, 2004, Pages 128-137

  Weleber, Richard G ^a   Gupta, Nisha ^b   Trzupek, Karmen M ^a   Wepner, Meredith S ^b   Kurz, Daryl E ^a   Milam, Ann H ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

CLN1; Electroretinogram; Infantile neuronal ceroid lipofuscinosis; Lysosomal storage diseases; Palmitoyl protein thioesterase 1; Pathology; PPT1; Retinal degeneration

Indexed keywords

LIPOFUSCIN; RHODOPSIN;

ARTICLE; AUTOFLUORESCENCE; BRAIN NERVE CELL; CASE REPORT; CELL COUNT; CELL TYPE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOPLASM; DEATH; ELECTRORETINOGRAPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; INFANTILE BATTEN DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; NEURONAL CEROID LIPOFUSCINOSIS INFANTILE FINNISH TYPE; NIGHT VISION; PHOTORECEPTOR; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA BIPOLAR GANGLION CELL; RETINA CONE; RETINA DISEASE; RETINA FOVEA; RETINA ROD;

CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; EYE; FEMALE; HUMANS; INFANT; LIPOFUSCIN; LYSOSOMAL STORAGE DISEASES; MALE; NEURONAL CEROID-LIPOFUSCINOSES; REFERENCE VALUES; RETINAL DEGENERATION; RETINAL DISEASES;

EID: 4744361095     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.06.019     Document Type: Article

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