title: High 64Cu uptake and retention values in two clinically atypical Menkes patients.
abstract: We have investigated two previously published atypical Menkes patients with 64Cu uptake and retention studies. Both of these analyses gave significantly increased results in the range seen for classical Menkes patients. 64Cu uptake analyses on female relatives gave the same uptake pattern as seen for other families with classical Menkes disease.
authors.affiliation: John F Kennedy Institute, Glostrup, Denmark.
authors.forename: T
authors.initials: T
authors.lastname: Tønnesen
authors.forename: C
authors.initials: C
authors.lastname: Garrett
authors.forename: A M
authors.initials: AM
authors.lastname: Gerdes
mesh_terms: D002478:Cells, Cultured; D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000097:blood; D003301:Copper Radioisotopes; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006197:Hair / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D010641:Phenotype
chemical_list: D003301:Copper Radioisotopes; D003300:Copper; D002570:Ceruloplasmin