title: Diagnosis of copper transport disorders.
abstract: Techniques for the diagnosis of copper transport disorders are increasingly important due to recent recognition of previously unappreciated clinical phenotypes and emerging advances in the treatment of these conditions. Here, we collate the diagnostic approaches and techniques currently employed for biochemical and molecular assessment of at-risk individuals in whom abnormal copper metabolism is suspected.
authors: Kennedy Centre, Glostrup, Denmark.
authors: Lisbeth B
authors: LB
authors: Møller
authors: Julia D
authors: JD
authors: Hicks
authors: Courtney S
authors: CS
authors: Holmes
authors: David S
authors: DS
authors: Goldstein
authors: Cornelia
authors: C
authors: Brendl
authors: Peter
authors: P
authors: Huppke
authors: Stephen G
authors: SG
authors: Kaler
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D002396:Catechols / Q000097:blood; D027682:Cation Transport Proteins / Q000235:genetics; D002570:Ceruloplasmin / Q000235:genetics; D015193:Chorionic Villi Sampling / Q000379:methods; D003300:Copper / Q000378:metabolism; D000079923:Copper Transporter 1; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis / Q000379:methods*; D005347:Fibroblasts / Q000378:metabolism; D017353:Gene Deletion; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics; D018832:Molecular Chaperones / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: C114678:CCS protein, human; D002396:Catechols; D027682:Cation Transport Proteins; D000079923:Copper Transporter 1; D018832:Molecular Chaperones; C490079:SLC31A1 protein, human; D003300:Copper; D002570:Ceruloplasmin; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases; C034221:catechol