Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses

Brain and Development

Volumn 34, Issue 9, 2012, Pages 739-745

  Chang, Xingzhi ^a   Huang, Yu ^b   Meng, Hongdi ^c   Jiang, Yuwu ^a   Wu, Ye ^a   Xiong, Hui ^a   Wang, Shuang ^a   Qin, Jiong ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

CLN2 gene; Curvilinear bodies; Late infantile; Lymphocyte vacuole; Neuronal ceroid lipofuscinoses; Tripeptidyl peptidase 1 activity

Indexed keywords

NEURONAL CEROID LIPOFUSCINOSIS PROTEIN 2; PEPTIDE HYDROLASE; PROTEIN; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; BLOOD SAMPLING; CELL ULTRASTRUCTURE; CELL VACUOLE; CEREBELLUM ATROPHY; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; DETERIORATION; DISEASE COURSE; ELECTROPHYSIOLOGY; ENZYME ACTIVITY; FOCAL EPILEPSY; FOLLOW UP; GENE MUTATION; GRAND MAL SEIZURE; HUMAN; HUMAN TISSUE; LATE INFANTILE FORM OF NEURONAL CEROID LIPOFUSCINOSES; LONG TERM CARE; LYMPHOCYTE; MENTAL FUNCTION; MUSCLE BIOPSY; MYOCLONUS SEIZURE; NEURONAL CEROID LIPOFUSCINOSIS; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; RETINITIS PIGMENTOSA; SKIN BIOPSY; TONIC CLONIC SEIZURE; VISUAL IMPAIRMENT;

AMINOPEPTIDASES; CHILD, PRESCHOOL; CHINA; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; DNA MUTATIONAL ANALYSIS; ELECTRON MICROSCOPE TOMOGRAPHY; EVOKED POTENTIALS, VISUAL; FEMALE; FOLLOW-UP STUDIES; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; LONGITUDINAL STUDIES; LYMPHOCYTES; MALE; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE; SERINE PROTEASES; SKIN;

EID: 84865589293     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.12.005     Document Type: Article

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