Niemann-Pick disease type C: Analysis of 7 patients

World Journal of Pediatrics

Volumn 8, Issue 1, 2012, Pages 61-66

  Xiong, Hui ^a   Bao, Xin Hua ^a   Zhang, Yue Hua ^a   Xu, You Ning ^b   Qin, Jiong ^a   Shi, Hui Ping ^c   Wu, Xi Ru ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b Beijing Changping District Hospital   (China)

^c PEKING UNION MEDICAL COLLEGE   (China)

Author keywords

Niemann Pick disease type C; Sea blue cells; Vertical supranuclear gaze palsy

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; SPHINGOMYELIN;

ADDUCTION; ADOLESCENT; ARTICLE; BONE MARROW; BRAIN ATROPHY; CATAPLEXY; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; DYSARTHRIA; DYSPHAGIA; ENZYME ACTIVITY; FEMALE; FOCAL EPILEPSY; GAZE PARALYSIS; GRAND MAL SEIZURE; HAND; HISTIOCYTOSIS; HUMAN; JOINT MOBILITY; JUVENILE; LANGUAGE DISABILITY; MALE; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; SCHOOL CHILD; SIBLING; SMEAR; SPLENOMEGALY;

ADOLESCENT; BIOLOGICAL MARKERS; BONE MARROW; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHINA; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; GLYCOPROTEINS; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C; PHENOTYPE; RETROSPECTIVE STUDIES; SIBLINGS; SPLENOMEGALY;

EID: 84858745846     PISSN: 17088569     EISSN: 18670687     Source Type: Journal    
DOI: 10.1007/s12519-011-0284-6     Document Type: Article

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