Niemann-Pick disease type C

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Vanier, Marie T ^a,b  

^a INSERM   (France)

^b HOSPICES CIVILS DE LYON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CHOLESTEROL; CHOLINERGIC RECEPTOR BLOCKING AGENT; CLOMIPRAMINE; FILIPIN; MELATONIN; MIGLUSTAT; MODAFINIL; NPC1 PROTEIN; NPC2 PROTEIN; PROTRIPTYLINE; SPHINGOMYELIN PHOSPHODIESTERASE; UNCLASSIFIED DRUG; 1 DEOXYNOJIRIMYCIN; DRUG DERIVATIVE;

BONE MARROW TRANSPLANTATION; CATAPLEXY; CELL MIGRATION; CEREBELLAR ATAXIA; CLINICAL FEATURE; DEMENTIA; DEVELOPMENTAL COORDINATION DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; DYSTONIA; EYE EXAMINATION; FALLING; GAIT DISORDER; GAZE PARALYSIS; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE; HEPATOSPLENOMEGALY; HISTOLOGY; HUMAN; INSOMNIA; LIPIDOSIS; MENTAL DISEASE; MONITORING; NEUROLOGIC EXAMINATION; NIEMANN PICK C DISEASE; NIEMANN PICK DISEASE; NONHUMAN; OBSTRUCTIVE JAUNDICE; ONSET AGE; PHENOTYPE; PHYSIOTHERAPY; PRENATAL DIAGNOSIS; PROGNOSIS; REVIEW; SEIZURE; SKIN FIBROBLAST; TREMOR; AGE; BLOOD; GENETIC ASSOCIATION; GENETIC SCREENING; GENETICS; METABOLISM; PATHOLOGY; PHYSIOLOGY; TRANSPORT AT THE CELLULAR LEVEL;

1-DEOXYNOJIRIMYCIN; AGE FACTORS; AGE OF ONSET; BIOLOGICAL TRANSPORT; CHOLESTEROL; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HUMANS; NIEMANN-PICK DISEASE, TYPE C;

EID: 77953019480     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-16     Document Type: Review

References (143)

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