Low ceruloplasmin in a patient with Niemann-Pick Type C disease

Journal of Clinical Neuroscience

Volumn 19, Issue 4, 2012, Pages 620-621

  Connemann, Bernhard J ^a   Gahr, Maximilian ^a   Schmid, Markus ^a   Runz, Heiko ^b   Freudenmann, Roland W ^a  

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Autosomal recessive copper disease; Lysosomal storage disease; Splenomegaly; Wilson disease

Indexed keywords

CERULOPLASMIN; CHITOTRIOSIDASE; COPPER; PENICILLAMINE;

ADRENAL CORTEX ATROPHY; ADULT; ARTICLE; BLUNTED AFFECT; CASE REPORT; CLINICAL FEATURE; COPPER BLOOD LEVEL; DEMENTIA; DYSARTHRIA; DYSKINESIA; DYSPHAGIA; ENZYME BLOOD LEVEL; EXON; FRAMESHIFT MUTATION; GAIT DISORDER; GENE; GENE MUTATION; HEMOLYSIS; HETEROZYGOSITY; HUMAN; NIEMANN PICK DISEASE; NPC1 GENE; NPC2 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERSECUTORY DELUSION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SCHIZOPHRENIA; SPLENOMEGALY; THROMBOCYTOPENIA; URINE INCONTINENCE; WILSON DISEASE;

ADULT; CARRIER PROTEINS; CERULOPLASMIN; COPPER; DIAGNOSTIC ERRORS; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C; SCHIZOPHRENIA;

EID: 84857788341     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2011.05.038     Document Type: Article

References (2)

1. H.R. Goez, F.D. Jacob, and R.D. Fealey An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C J Child Neurol 26 2011 518 521
2. C. Yanagimoto, M. Harada, and H. Kumemura Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides Exp Cell Res 315 2009 119 126