title: Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene.
authors.affiliation: Clinical Neuroscience Branch, NINDS, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: S G
authors.initials: SG
authors.lastname: Kaler
authors.forename: C S
authors.initials: CS
authors.lastname: Holmes
authors.forename: D S
authors.initials: DS
authors.lastname: Goldstein
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D015415:Biomarkers / Q000134:cerebrospinal fluid; D002352:Carrier Proteins / Q000235:genetics*; D002395:Catecholamines / Q000134:cerebrospinal fluid; D027682:Cation Transport Proteins; D002648:Child; D003300:Copper / Q000378:metabolism*; D000073840:Copper-Transporting ATPases; D004299:Dopamine beta-Hydroxylase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007706:Menkes Kinky Hair Syndrome / Q000201:enzymology / Q000235:genetics; D008664:Metal Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation; D011993:Recombinant Fusion Proteins; D014960:X Chromosome
chemical_list: D015415:Biomarkers; D002352:Carrier Proteins; D002395:Catecholamines; D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D003300:Copper; D004299:Dopamine beta-Hydroxylase; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases