Copper deficiency associated with severe neurological disorder - A genetic work-up of possible mutations in copper transport proteins

Journal of the Neurological Sciences

Volumn 291, Issue 1-2, 2010, Pages 95-97

  Bach, Jan Philipp ^a   Kumar, Neeraj ^b   Depboylu, Candan ^a   Noelker, Carmen ^a   Klockgether, Thomas ^c   Bacher, Michael ^a   Balzer Geldsetzer, Monika ^a   Dodel, Richard ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF BONN   (Germany)

Author keywords

Ataxia; Chaperone copper transport; Copper; Copper metabolism; Copper transport; Mutation analysis

Indexed keywords

CARRIER PROTEIN; CERULOPLASMIN; CHAPERONE; COPPER TRANSPORT PROTEIN; UNCLASSIFIED DRUG; ZINC;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CLINICAL ASSESSMENT; CLINICAL FEATURE; COPPER DEFICIENCY; COPPER METABOLISM; DIAGNOSTIC APPROACH ROUTE; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HAND MUSCLE; HUMAN; HYPERREFLEXIA; LABORATORY DIAGNOSIS; MALE; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; URINALYSIS; ZINC BLOOD LEVEL;

ADULT; ATAXIA; CATION TRANSPORT PROTEINS; COPPER; DEFICIENCY DISEASES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE SPASTICITY; POLYMORPHISM, SINGLE NUCLEOTIDE; REFLEX, ABNORMAL;

EID: 77349109698     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.01.008     Document Type: Article

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