Dopamine β-Hydroxylase Deficiency Associated with Mutations in a Copper Transporter Gene

Advances in Pharmacology

Volumn 42, Issue C, 1997, Pages 66-68

  Kaler, Stephen G ^a,b   Holmes, Courtney S ^a   Goldstein, David S ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77956720665     PISSN: 10543589     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1054-3589(08)60697-3     Document Type: Article

References (7)

1. Kaler S.G. Menkes disease. Adv. Pediatr. 41 (1994) 263-304
2. Vulpe C., Levinson B., Whitney S., Packman S., and Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat. Genet. 3 (1993) 7-13
3. Kaler S.G., Gallo L.K., Proud V.K., Percy A.K., Mark Y., Segal N.A., Goldstein D.S., Holmes C.S., and Gahl W.A. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the Menkes locus. Nat. Genet. 8 (1984) 195-202
4. Kaler S.G. Menkes disease mutations and response to early copper histidine treatment. (Letter). Nat. Genet. 13 (1996) 21-22
5. Kaler S.G., Goldstein D.S., Holmes C., Salerno J., and Gahl W.A. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann. Neurol. 33 (1993) 171-175
6. Kaler S.G., Gahl W.A., Berry S.A., Holmes C.S., and Goldstein D.S. Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease. J. Inherited Metab. Dis. 16 (1993) 907-908
7. Adam A.N., Dierick H.A., Escara-Wilke J.F., and Glover T.W. Localization of the Menkes copper transport protein to the Golgi complex. Am. J. Hum. Genet. 59 Suppl (1996) A244