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Volumn 20, Issue 2, 1998, Pages 95-97
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Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann-Pick disease type C
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Author keywords
Cholesterol; Foamy cells; GM2 ganglioside; Juvenile lipidosis; Niemann Pick disease type C (NPC)
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Indexed keywords
CHOLESTEROL;
FILIPIN;
GANGLIOSIDE GM2;
GLYCOLIPID;
SPHINGOMYELIN PHOSPHODIESTERASE;
ADOLESCENT;
ARTICLE;
ATAXIA;
BONE MARROW BIOPSY;
BRAIN CORTEX;
CASE REPORT;
CHOLESTEROL ESTERIFICATION;
CLINICAL FEATURE;
CYTOPLASM;
DYSARTHRIA;
DYSTONIA;
ENZYME ACTIVITY;
FIBROBLAST;
FIBROBLAST CULTURE;
GAZE PARALYSIS;
HISTOCHEMISTRY;
HUMAN;
HUMAN CELL;
LIPID METABOLISM;
MALE;
MENTAL DEFICIENCY;
NEUROLOGIC DISEASE;
NIEMANN PICK DISEASE;
SKIN FIBROBLAST;
SPLENOMEGALY;
BONE MARROW CELL;
BRAIN;
ELECTROENCEPHALOGRAPHY;
METABOLISM;
NEUROLOGIC EXAMINATION;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PATHOLOGY;
PATHOPHYSIOLOGY;
ADOLESCENT;
BONE MARROW CELLS;
BRAIN;
ELECTROENCEPHALOGRAPHY;
FIBROBLASTS;
FILIPIN;
G(M2) GANGLIOSIDE;
HUMANS;
MAGNETIC RESONANCE IMAGING;
MALE;
NEUROLOGIC EXAMINATION;
NIEMANN-PICK DISEASES;
SPLENOMEGALY;
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EID: 0031594198
PISSN: 03877604
EISSN: None
Source Type: Journal
DOI: 10.1016/S0387-7604(97)00113-7 Document Type: Article |
Times cited : (32)
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References (10)
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