An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type c

Journal of Child Neurology

Volumn 26, Issue 4, 2011, Pages 518-521

  Goez, Helly R ^a,c   Jacob, Francois D ^a   Fealey, Robert D ^b   Patterson, Marc C ^b   Ramaswamy, Vijay ^a   Persad, Rabin ^a   Johnson, Edward S ^a   Yager, Jerome Y ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

^b MAYO CLINIC ROCHESTER   (United States)

^c STOLLERY CHILDREN S HOSPITAL   (Canada)

Author keywords

ataxia; copper; dysarthria; Niemann Pick type C

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; CERULOPLASMIN; CHOLESTEROL; COPPER; GLUCONATE COPPER; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HOMOVANILLIC ACID; SPHINGOMYELIN PHOSPHODIESTERASE;

5 HYDROXYINDOLEACETIC ACID BRAIN LEVEL; ADOLESCENT; ADOLESCENT DISEASE; ARTICLE; ATAXIA; ATTENTION DEFICIT DISORDER; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; CHOLESTEROL BLOOD LEVEL; COGNITIVE DEFECT; COPPER BLOOD LEVEL; COPPER DEFICIENCY; COPPER METABOLISM DISORDER; DIFFERENTIAL DIAGNOSIS; DISORDERS OF METAL METABOLISM; DYSARTHRIA; GAIT DISORDER; GAZE PARALYSIS; GENE; GENE MUTATION; HUMAN; INHIBITION KINETICS; LEARNING DISORDER; LIPOPROTEIN BLOOD LEVEL; MALE; MUSCLE BIOPSY; NIEMANN PICK DISEASE; NPC1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SLURRED SPEECH; SPINOCEREBELLAR DEGENERATION; VERTICAL GAZE PARESIS;

ADOLESCENT; CARRIER PROTEINS; COPPER; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE GLYCOPROTEINS; METABOLIC DISEASES; MUTATION; NIEMANN-PICK DISEASES;

EID: 79954610798     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810383983     Document Type: Article

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