-
1
-
-
78651124591
-
A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration
-
Menkes JH, Alter M, Steigleder GK, et al: A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Paediatrics 1962;29:764-779.
-
(1962)
Paediatrics
, vol.29
, pp. 764-779
-
-
Menkes, J.H.1
Alter, M.2
Steigleder, G.K.3
-
3
-
-
0027446365
-
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
-
Vulpe C, Levinson B, Whitney S, et al: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet 1993;3:7-13.
-
(1993)
Nature Genet
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
-
4
-
-
0028710036
-
Menkes disease, review
-
Kaler SG: Menkes disease, review. Adv Pediatr 1994;41:263-304.
-
(1994)
Adv Pediatr
, vol.41
, pp. 263-304
-
-
Kaler, S.G.1
-
5
-
-
0000386450
-
Disorders of copper transport
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York, McGraw-Hill
-
Danks DM: Disorders of copper transport, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease, 7th ed. New York, McGraw-Hill, 1995.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease, 7th Ed.
-
-
Danks, D.M.1
-
7
-
-
0025731413
-
MR of progressive neurodegenerative change in treated Menkes kinky hair disease
-
Johnsen DE, Coleman L, Poe L: MR of progressive neurodegenerative change in treated Menkes kinky hair disease. Neuroradiology 1991;33:181-182.
-
(1991)
Neuroradiology
, vol.33
, pp. 181-182
-
-
Johnsen, D.E.1
Coleman, L.2
Poe, L.3
-
8
-
-
0027223901
-
Cranial MRI and MR angiography in Menkes syndrome
-
Takahashi S, Ishii K, Matsumoto K, et al: Cranial MRI and MR angiography in Menkes syndrome. Neuroradiology 1993;35:556-558.
-
(1993)
Neuroradiology
, vol.35
, pp. 556-558
-
-
Takahashi, S.1
Ishii, K.2
Matsumoto, K.3
-
9
-
-
0027198553
-
Menkes kinky hair disease: Characteristic MR angiographic findings
-
Jacobs DS, Smith AS, Finelli DA, et al: Menkes kinky hair disease: Characteristic MR angiographic findings. AJNR Am J Neuroradiol 1993;14:1160-1163.
-
(1993)
AJNR Am J Neuroradiol
, vol.14
, pp. 1160-1163
-
-
Jacobs, D.S.1
Smith, A.S.2
Finelli, D.A.3
-
11
-
-
0027428013
-
Complete recovery of cytochrome oxidase and superoxide dismutase activities in the brain of brindled mice receiving copper therapy
-
Yoshimura N, Hatayama I, Nishimura M: Complete recovery of cytochrome oxidase and superoxide dismutase activities in the brain of brindled mice receiving copper therapy. J Intellect Disabil Res 1993;37:561-567.
-
(1993)
J Intellect Disabil Res
, vol.37
, pp. 561-567
-
-
Yoshimura, N.1
Hatayama, I.2
Nishimura, M.3
-
12
-
-
0025836074
-
Changes of copper level and cytochrome c oxidase activity in the macular mouse with age
-
Meguro Y, Kodama H, Abe T, et al: Changes of copper level and cytochrome c oxidase activity in the macular mouse with age. Brain Dev 1991;13:184-186.
-
(1991)
Brain Dev
, vol.13
, pp. 184-186
-
-
Meguro, Y.1
Kodama, H.2
Abe, T.3
-
13
-
-
0027372207
-
Cytochrome c oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: Immunohistochemical study
-
Sparaco M, Hirano M, DiMauro S, Bonilla E: Cytochrome c oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: Immunohistochemical study. Brain Pathol 1993;3:349-354.
-
(1993)
Brain Pathol
, vol.3
, pp. 349-354
-
-
Sparaco, M.1
Hirano, M.2
DiMauro, S.3
Bonilla, E.4
-
14
-
-
0027337008
-
Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts
-
Gacheru S, McGee C, Uriu-Hare JY, et al: Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys 1993;301:325-329.
-
(1993)
Arch Biochem Biophys
, vol.301
, pp. 325-329
-
-
Gacheru, S.1
McGee, C.2
Uriu-Hare, J.Y.3
|