-
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, WEAKLEY DRJH. S: A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics (1962) 29:764-769.
-
(1962)
Pediatrics
, vol.29
, pp. 764-769
-
-
Menkes, J.H.1
Alter, M.2
Steigleder, G.K.3
Weakley, Drjh.S.4
-
2
-
-
0015384074
-
Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects
-
DANKS DM, CAMPBELL PE, STEVENS BJ, MAYNE VCARTWRIGHT E: Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics (1972) 50(2):188-201.
-
(1972)
Pediatrics
, vol.50
, Issue.2
, pp. 188-201
-
-
Danks, D.M.1
Campbell, P.E.2
Stevens, B.J.3
Mayne, V.4
Cartwright, E.5
-
3
-
-
0015927202
-
Menkes' kinky hair disease: Further definition of the defect in copper transport
-
DANKS DM, CARTWRIGHT E, STEVENS BJ, TOWNLEY RR: Menkes' kinky hair disease: further definition of the defect in copper transport. Science (1973) 179(78):1140-2.
-
(1973)
Science
, vol.179
, Issue.78
, pp. 1140-1142
-
-
Danks, D.M.1
Cartwright, E.2
Stevens, B.J.3
Townley, R.R.4
-
4
-
-
0016330759
-
Primary defect in copper transport underlies mottled mutants in the mouse
-
HUNT DM: Primary defect in copper transport underlies mottled mutants in the mouse. Nature (1974) 249(460):852-854.
-
(1974)
Nature
, vol.249
, Issue.460
, pp. 852-854
-
-
Hunt, D.M.1
-
5
-
-
0001721751
-
A new mutant mouse, macular(ML)
-
In Japanese
-
NISHIMURA M: A new mutant mouse, macular(ML). Exp. Anim. (1975) 24:185. In Japanese.
-
(1975)
Exp. Anim.
, vol.24
, pp. 185
-
-
Nishimura, M.1
-
6
-
-
0016762389
-
Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- A new hereditary syndrome
-
LAZOFF SG, RYBAK JJ, PARKER BR, LUZZATTI L: Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome. Birth Defects Orig. Artic. Ser. (1975) 11(5):71-74.
-
(1975)
Birth Defects Orig. Artic. Ser.
, vol.11
, Issue.5
, pp. 71-74
-
-
Lazoff, S.G.1
Rybak, J.J.2
Parker, B.R.3
Luzzatti, L.4
-
7
-
-
0028923703
-
Genes of the copper pathway
-
COX DW: Genes of the copper pathway. Am. J. Hum. Genet. (1995) 56(4):828-834.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, Issue.4
, pp. 828-834
-
-
Cox, D.W.1
-
8
-
-
0002974033
-
Intracellular copper routing: The role of copper chaperones
-
HARRISON MD, JONES CE, SOLIOZ M, DAMERON CT: Intracellular copper routing: the role of copper chaperones. Trends Biochem. Sci. (2000) 25(1):29-32.
-
(2000)
Trends Biochem. Sci.
, vol.25
, Issue.1
, pp. 29-32
-
-
Harrison, M.D.1
Jones, C.E.2
Solioz, M.3
Dameron, C.T.4
-
9
-
-
0033813548
-
Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins
-
WERNIMONT AK, HUFFMAN DL, LAMB AL, O'HALLORAN TV, ROSENZWEIG AC: Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins. Nature Struct. Biol. (2000) 7(9):766-771.
-
(2000)
Nature Struct. Biol.
, vol.7
, Issue.9
, pp. 766-771
-
-
Wernimont, A.K.1
Huffman, D.L.2
Lamb, A.L.3
O'Halloran, T.V.4
Rosenzweig, A.C.5
-
10
-
-
0026518090
-
Mapping of the Menkes locus to Xq13-3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2
-
TüMER Z, TOMMERUP N, TØNNESEN T, KREUDER J, CRAIG IW, HORN N: Mapping of the Menkes locus to Xq13-3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. Hum. Genet. (1992) 88(6):668-672.
-
(1992)
Hum. Genet.
, vol.88
, Issue.6
, pp. 668-672
-
-
Tümer, Z.1
Tommerup, N.2
Tønnesen, T.3
Kreuder, J.4
Craig, I.W.5
Horn, N.6
-
11
-
-
0027446365
-
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
-
VULPE C, LEVINSON B, WHITNEY S, PACKMAN S, GITSCHIER J: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet. (1993) 3(1):7-13.
-
(1993)
Nature Genet.
, vol.3
, Issue.1
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
Packman, S.4
Gitschier, J.5
-
12
-
-
0027500142
-
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
-
CHELLY J, TÜMER Z, TØNNESEN T et al.: Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat. Genet. (1993) 3(1):14-19.
-
(1993)
Nat. Genet.
, vol.3
, Issue.1
, pp. 14-19
-
-
Chelly, J.1
Tümer, Z.2
Tønnesen, T.3
-
13
-
-
0027475976
-
Isolation of a partial candidate gene for Menkes disease by positional cloning
-
MERCER JF, LIVINGSTON J, HALL B et al.: Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. (1993) 3(1):20-25.
-
(1993)
Nature Genet.
, vol.3
, Issue.1
, pp. 20-25
-
-
Mercer, J.F.1
Livingston, J.2
Hall, B.3
-
14
-
-
0029129769
-
Molecular structure of the Menkes disease gene (ATP7A)
-
DIERICK HA, AMBROSINI L, SPENCER J, GLOVER TW, MERCER JF: Molecular structure of the Menkes disease gene (ATP7A). Genomics (1995) 28(3):462-469.
-
(1995)
Genomics
, vol.28
, Issue.3
, pp. 462-469
-
-
Dierick, H.A.1
Ambrosini, L.2
Spencer, J.3
Glover, T.W.4
Mercer, J.F.5
-
15
-
-
0028247206
-
The mottled gene is the mouse homologue of the Menkes disease gene
-
LEVINSON B, VULPE C, ELDER B et al.: The mottled gene is the mouse homologue of the Menkes disease gene. Nat. Genet. (1994) 6(4):369-373.
-
(1994)
Nat. Genet.
, vol.6
, Issue.4
, pp. 369-373
-
-
Levinson, B.1
Vulpe, C.2
Elder, B.3
-
16
-
-
0030768062
-
Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease
-
MURATA Y, KODAMA H, ABE T, ISHIDA N, NISHIMURA M, LEVINSON B et al.: Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. Pediatr. Res. (1997) 42(4):436-442.
-
(1997)
Pediatr. Res.
, vol.42
, Issue.4
, pp. 436-442
-
-
Murata, Y.1
Kodama, H.2
Abe, T.3
Ishida, N.4
Nishimura, M.5
Levinson, B.6
-
17
-
-
0028804765
-
Copper transport and kinetics in cultured C6 rat glioma cells
-
QIAN Y, TIFFANY-CASTIGLIONI E, HARRIS ED: Copper transport and kinetics in cultured C6 rat glioma cells. Am. J. Physiol. (1995) 269(4 Pt 1):C892-898.
-
(1995)
Am. J. Physiol.
, vol.269
, Issue.4 PART 1
-
-
Qian, Y.1
Tiffany-Castiglioni, E.2
Harris, E.D.3
-
18
-
-
0031829282
-
Copper efflux from murine microvascular cells requires expression of the menkes disease CuATPase
-
QIAN Y, TIFFANY-CASTIGLIONI E, WELSH J, HARRIS ED: Copper efflux from murine microvascular cells requires expression of the menkes disease CuATPase. J. Nutr. (1998) 128(8):1276-1282.
-
(1998)
J. Nutr.
, vol.128
, Issue.8
, pp. 1276-1282
-
-
Qian, Y.1
Tiffany-Castiglioni, E.2
Welsh, J.3
Harris, E.D.4
-
19
-
-
0030839796
-
N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat
-
LUTSENKO S, PETRUKHIN K, COOPER MJ, GILLIAM CT, KAPLAN JH: N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat. J. Biol. Chem. (1997) 272(30):18939-18944.
-
(1997)
J. Biol. Chem.
, vol.272
, Issue.30
, pp. 18939-18944
-
-
Lutsenko, S.1
Petrukhin, K.2
Cooper, M.J.3
Gilliam, C.T.4
Kaplan, J.H.5
-
20
-
-
0034643816
-
Stoichiometry of complex formation between Copper(I) and the N-terminal domain of the Menkes protein
-
COBINE PA, GEORGE GN, WINZOR DJ, HARRISON MD, MOGAHADDAS S, DAMERON CT: Stoichiometry of complex formation between Copper(I) and the N-terminal domain of the Menkes protein. Biochemistry (2000) 39(23):6857-6863.
-
(2000)
Biochemistry
, vol.39
, Issue.23
, pp. 6857-6863
-
-
Cobine, P.A.1
George, G.N.2
Winzor, D.J.3
Harrison, M.D.4
Mogahaddas, S.5
Dameron, C.T.6
-
21
-
-
0030467256
-
Biochemical characterization and intracellular localization of the Menkes disease protein
-
YAMAGUCHI Y, HEINY ME, SUZUKI M, GITLIN JD: Biochemical characterization and intracellular localization of the Menkes disease protein. Proc. Natl. Acad. Sci. USA (1996) 93(24):14030-14035.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, Issue.24
, pp. 14030-14035
-
-
Yamaguchi, Y.1
Heiny, M.E.2
Suzuki, M.3
Gitlin, J.D.4
-
22
-
-
0031055871
-
Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network
-
DIERICK HA, ADAM AN, ESCARAWILKE JF, GLOVER TW: Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network. Hum. Mol. Genet. (1997) 6(3):409-416.
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.3
, pp. 409-416
-
-
Dierick, H.A.1
Adam, A.N.2
Escarawilke, J.F.3
Glover, T.W.4
-
23
-
-
0031730641
-
A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network
-
PETRIS MJ, CAMAKARIS J, GREENOUGH M, LAFONTAINE S, MERCER JF: A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum. Mol. Genet. (1998) 7(13):2063-2071.
-
(1998)
Hum. Mol. Genet.
, vol.7
, Issue.13
, pp. 2063-2071
-
-
Petris, M.J.1
Camakaris, J.2
Greenough, M.3
Lafontaine, S.4
Mercer, J.F.5
-
24
-
-
0029909937
-
Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: A novel mechanism of regulated trafficking
-
PETRIS MJ, MERCER JF, CULVENOR JG, LOCKHART P, GLEESON PA, CAMAKARIS J: Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. EMBO J. (1996) 15(22):6084-6095.
-
(1996)
EMBO J.
, vol.15
, Issue.22
, pp. 6084-6095
-
-
Petris, M.J.1
Mercer, J.F.2
Culvenor, J.G.3
Lockhart, P.4
Gleeson, P.A.5
Camakaris, J.6
-
25
-
-
0029773626
-
Functional analysis of a genetic defect of copper transport (Menkes disease) in different cell lines
-
QIAN Y, TIFFANY-CASTIGLIONI E, HARRIS ED: Functional analysis of a genetic defect of copper transport (Menkes disease) in different cell lines. Am. J. Physiol.(1996) 271(1 Pt 1):C378-384.
-
(1996)
Am. J. Physiol.
, vol.271
, Issue.1 PART 1
-
-
Qian, Y.1
Tiffany-Castiglioni, E.2
Harris, E.D.3
-
26
-
-
0033618310
-
Functional analysis of the N-terminal CXXC metal-binding motifs in the human menkes copper-transporting P-type ATPase expressed in cultured mammalian cells
-
VOSKOBOINIK I, STRAUSAK D, GREENOUGH M et al.: Functional analysis of the N-terminal CXXC metal-binding motifs in the human menkes copper-transporting P-type ATPase expressed in cultured mammalian cells. J. Biol. Chem. (1999) 274(31):22008-22012.
-
(1999)
J. Biol. Chem.
, vol.274
, Issue.31
, pp. 22008-22012
-
-
Voskoboinik, I.1
Strausak, D.2
Greenough, M.3
-
27
-
-
0028246694
-
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice
-
MERCER JF, GRIMES A, AMBROSINI L et al.: Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nat. Genet. (1994) 6(4):374-378.
-
(1994)
Nat. Genet.
, vol.6
, Issue.4
, pp. 374-378
-
-
Mercer, J.F.1
Grimes, A.2
Ambrosini, L.3
-
28
-
-
0028957864
-
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse
-
DAS S, LEVINSON B, VULPE C, WHITNEY S, GITSCHIER J, PACKMAN S: Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet. (1995) 56(3):570-576.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, Issue.3
, pp. 570-576
-
-
Das, S.1
Levinson, B.2
Vulpe, C.3
Whitney, S.4
Gitschier, J.5
Packman, S.6
-
29
-
-
0030967641
-
The mottled mouse as a model for human Menkes disease: Identification of mutations in the Atp7a gene
-
CECCHI C, BIASOTTO M, TOSI M, AVNER P: The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. Hum. Mol. Genet. (1997) 6(3):425-433.
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.3
, pp. 425-433
-
-
Cecchi, C.1
Biasotto, M.2
Tosi, M.3
Avner, P.4
-
30
-
-
0031048445
-
Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease
-
REED V, BOYD Y: Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. Hum. Mol. Genet. (1997) 6(3):417-423.
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.3
, pp. 417-423
-
-
Reed, V.1
Boyd, Y.2
-
31
-
-
0030752983
-
Molecular basis of the brindled mouse mutant (Mo(br)): A murine model of Menkes disease
-
GRIMES A, HEARN CJ, LOCKHART P, NEWGREEN DF, MERCER JF: Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. Hum. Mol. Genet. (1997) 6(7):1037-1042.
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.7
, pp. 1037-1042
-
-
Grimes, A.1
Hearn, C.J.2
Lockhart, P.3
Newgreen, D.F.4
Mercer, J.F.5
-
32
-
-
0030954683
-
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease
-
MASSON W, HUGHES H, PAPWORTH D, BOYD Y, HORN N: Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. J. Med. Genet. (1997) 34(9):729-732.
-
(1997)
J. Med. Genet.
, vol.34
, Issue.9
, pp. 729-732
-
-
Masson, W.1
Hughes, H.2
Papworth, D.3
Boyd, Y.4
Horn, N.5
-
33
-
-
0035811058
-
The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis
-
HAMZA I, FAISST A, PROHASKA J, CHEN J, GRUSS P, GITLIN JD: The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis. Proc. Natl. Acad. Sci. USA (2001)98:6848-6852.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 6848-6852
-
-
Hamza, I.1
Faisst, A.2
Prohaska, J.3
Chen, J.4
Gruss, P.5
Gitlin, J.D.6
-
34
-
-
0028710036
-
Menkes disease
-
KALER SG: Menkes disease. Adv. Pediatr. (1994) 41:263-304.
-
(1994)
Adv. Pediatr.
, vol.41
, pp. 263-304
-
-
Kaler, S.G.1
-
35
-
-
0028009672
-
Occipital horn syndrome: Report of a patient and review of the literature
-
TSUKAHARA M, IMAIZUMI K, KAWAI S, KAJII T: Occipital horn syndrome: report of a patient and review of the literature. Clin. Genet. (1994) 45(1):32-35.
-
(1994)
Clin. Genet.
, vol.45
, Issue.1
, pp. 32-35
-
-
Tsukahara, M.1
Imaizumi, K.2
Kawai, S.3
Kajii, T.4
-
36
-
-
0023759753
-
The mild form of Menkes disease: Progress report on the original case
-
DANKS DM: The mild form of Menkes disease: progress report on the original case. Am. J. Med. Genet. (1988) 30(3):859-864.
-
(1988)
Am. J. Med. Genet.
, vol.30
, Issue.3
, pp. 859-864
-
-
Danks, D.M.1
-
37
-
-
0023696983
-
Variability in clinical expression of Menkes syndrome
-
GERDES AM, TØNNESEN T, PERGAMENT E et al.: Variability in clinical expression of Menkes syndrome. Eur. J. Pediatr. (1988) 148(2):132-135.
-
(1988)
Eur. J. Pediatr.
, vol.148
, Issue.2
, pp. 132-135
-
-
Gerdes, A.M.1
Tønnesen, T.2
Pergament, E.3
-
38
-
-
0024043305
-
Atypical Menkes steely hair disease
-
WESTMAN JA, RICHARDSON DC, RENNERT OM, MORROW G: Atypical Menkes steely hair disease. Am. J. Med. Genet. (1988) 30(3):853-858.
-
(1988)
Am. J. Med. Genet.
, vol.30
, Issue.3
, pp. 853-858
-
-
Westman, J.A.1
Richardson, D.C.2
Rennert, O.M.3
Morrow, G.4
-
39
-
-
0028017998
-
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
-
KALER SG, GALLO LK, PROUD VK et al.: Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet. (1994) 8(2):195-202.
-
(1994)
Nature Genet.
, vol.8
, Issue.2
, pp. 195-202
-
-
Kaler, S.G.1
Gallo, L.K.2
Proud, V.K.3
-
40
-
-
0022914189
-
Menkes syndrome in a girl with X-autosomc translocation
-
KAPUR S, HIGGINS JV, DELP K, ROGERS B: Menkes syndrome in a girl with X-autosomc translocation. Am. J. Med. Genet. (1987) 26(2):503-510.
-
(1987)
Am. J. Med. Genet.
, vol.26
, Issue.2
, pp. 503-510
-
-
Kapur, S.1
Higgins, J.V.2
Delp, K.3
Rogers, B.4
-
41
-
-
0025905007
-
Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1
-
VERGA V, HALL BK, WANG SR, JOHNSON S, HIGGINS JV, GLOVER TW: Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. Am. J. Hum. Genet. (1991) 48(6):1133-1138.
-
(1991)
Am. J. Hum. Genet.
, vol.48
, Issue.6
, pp. 1133-1138
-
-
Verga, V.1
Hall, B.K.2
Wang, S.R.3
Johnson, S.4
Higgins, J.V.5
Glover, T.W.6
-
42
-
-
0028080313
-
X;1 translocation in a female Menkes patient: Characterization by fluorescence in situ hybridization
-
BECK J, ENDERS H, SCHLIEPHACKE M, BUCHWALD-SAAL M, TÜMER Z: X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization. Clin. Genet. (1994) 46(4):295-298.
-
(1994)
Clin. Genet.
, vol.46
, Issue.4
, pp. 295-298
-
-
Beck, J.1
Enders, H.2
Schliephacke, M.3
Buchwald-Saal, M.4
Tümer, Z.5
-
43
-
-
0031719345
-
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease
-
SUGIO Y, KUWANO A, MIYOSHI O, YAMADA K, NIIKAWA N, TSUKAHARA M: Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease. Am. J. Med. Genet. (1998) 79(3):191-194.
-
(1998)
Am. J. Med. Genet.
, vol.79
, Issue.3
, pp. 191-194
-
-
Sugio, Y.1
Kuwano, A.2
Miyoshi, O.3
Yamada, K.4
Niikawa, N.5
Tsukahara, M.6
-
44
-
-
0033278332
-
Mutation spectrum of ATP7A, the gene defective in Menkes disease
-
TÜMER Z, MØLLER LB, HORN N: Mutation spectrum of ATP7A, the gene defective in Menkes disease. Adv. Exp. Med. Biol. (1999) 448:83-95.
-
(1999)
Adv. Exp. Med. Biol.
, vol.448
, pp. 83-95
-
-
Tümer, Z.1
Møller, L.B.2
Horn, N.3
-
45
-
-
0029836981
-
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
-
LEVINSON B, CONANT R, SCHNUR R, DAS S, PACKMAN S, GITSCHIER J: A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum. Mol. Genet. (1996) 5(11):1737-1742.
-
(1996)
Hum. Mol. Genet.
, vol.5
, Issue.11
, pp. 1737-1742
-
-
Levinson, B.1
Conant, R.2
Schnur, R.3
Das, S.4
Packman, S.5
Gitschier, J.6
-
46
-
-
0030862748
-
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family
-
RONCE N, MOIZARD MP, ROBB L, TOUTAIN A, VILLARD L, MORAINE C: A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. Am. J. Hum. Genet. (1997) 61(1):233-238.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, Issue.1
, pp. 233-238
-
-
Ronce, N.1
Moizard, M.P.2
Robb, L.3
Toutain, A.4
Villard, L.5
Moraine, C.6
-
47
-
-
0031934417
-
Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome
-
QI M, BYERS PH: Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome. Hum. Mol. Genet. (1998) 7(3):465-469.
-
(1998)
Hum. Mol. Genet.
, vol.7
, Issue.3
, pp. 465-469
-
-
Qi, M.1
Byers, P.H.2
-
48
-
-
0032838080
-
Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease
-
AMBROSINI L, MERCER JFB: Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Hum. Mol. Genet. (1999) 8(8):1547-1555.
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.8
, pp. 1547-1555
-
-
Ambrosini, L.1
Mercer, J.F.B.2
-
49
-
-
0000241356
-
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome
-
MØLLER LB, TüMER Z, LUND C et al.: Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am. J. Hum. Genet. (2000) 66(4):1211-1220.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, Issue.4
, pp. 1211-1220
-
-
Møller, L.B.1
Tümer, Z.2
Lund, C.3
-
50
-
-
0035869131
-
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome
-
GU YH, KODAMA H, MURATA Y et al.: ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am. J. Med. Genet. (2001) 99(3):217-222.
-
(2001)
Am. J. Med. Genet.
, vol.99
, Issue.3
, pp. 217-222
-
-
Gu, Y.H.1
Kodama, H.2
Murata, Y.3
-
51
-
-
0027163651
-
Histochemical localization of copper in the intestine and kidney of macular mice: Light and electron microscopic study
-
KODAMA H, ABE T, TAKAMA M, TAKAHASHI I, KODAMA M, NISHIMURA M: Histochemical localization of copper in the intestine and kidney of macular mice: light and electron microscopic study. J. Histochem. Cytochem. (1993) 41(10):1529-1535.
-
(1993)
J. Histochem. Cytochem.
, vol.41
, Issue.10
, pp. 1529-1535
-
-
Kodama, H.1
Abe, T.2
Takama, M.3
Takahashi, I.4
Kodama, M.5
Nishimura, M.6
-
52
-
-
0019871078
-
Tissue copper concentrations of patients with Menke's kinky hair disease
-
WILLIAMS DM, ATKIN CL: Tissue copper concentrations of patients with Menke's kinky hair disease. Am. J. Dis. Child (1981) 135(4):375-376.
-
(1981)
Am. J. Dis. Child
, vol.135
, Issue.4
, pp. 375-376
-
-
Williams, D.M.1
Atkin, C.L.2
-
53
-
-
0019459912
-
Trace element studies in three patients and a fetus with Menkes' disease. Effect of copper therapy
-
NOOIJEN JL, DE GROOT CJ, VAN DEN HAMER CJ, MONNENS LA, WILLEMSE J, NIERMEIJER MF: Trace element studies in three patients and a fetus with Menkes' disease. Effect of copper therapy. Pediatr. Res. (1981) 15(3):284-289.
-
(1981)
Pediatr. Res.
, vol.15
, Issue.3
, pp. 284-289
-
-
Nooijen, J.L.1
De Groot, C.J.2
Van Den Hamer, C.J.3
Monnens, L.A.4
Willemse, J.5
Niermeijer, M.F.6
-
54
-
-
0032769447
-
Molecular genetics and pathophysiology of Menkes disease
-
KODAMA H, MURATA Y: Molecular genetics and pathophysiology of Menkes disease. Pediatr. Int. (1999) 41(4):430-435.
-
(1999)
Pediatr. Int.
, vol.41
, Issue.4
, pp. 430-435
-
-
Kodama, H.1
Murata, Y.2
-
55
-
-
0025836074
-
Changes of copper level and cytochrome c oxidise activity in the macular mouse with age
-
MEGURO Y, KODAMA H, ABE T, KOBAYASHI S, KODAMA Y, NISHIMURA M: Changes of copper level and cytochrome c oxidise activity in the macular mouse with age. Brain Dev. (1991) 13(3):184-186.
-
(1991)
Brain Dev.
, vol.13
, Issue.3
, pp. 184-186
-
-
Meguro, Y.1
Kodama, H.2
Abe, T.3
Kobayashi, S.4
Kodama, Y.5
Nishimura, M.6
-
56
-
-
0027428013
-
Complete recovery of cytochrome oxidase and superoxide dismutase activities in the brain of brindled mice receiving copper therapy
-
YOSHIMURA N, HATAYAMA I, SATO K, 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(Pt 6):561-567.
-
(1993)
J. Intellect. Disabil. Res.
, vol.37
, Issue.6 PART
, pp. 561-567
-
-
Yoshimura, N.1
Hatayama, I.2
Sato, K.3
Nishimura, M.4
-
57
-
-
0031960936
-
Copper, lysyl oxidase and extracellular matrix protein cross-linking
-
RUCKER RB, KOSONEN T, CLEGG MS et al.: Copper, lysyl oxidase and extracellular matrix protein cross-linking. Am. J. Clin. Nutr. (1998) 67(Suppl. 5):996S-1002S.
-
(1998)
Am. J. Clin. Nutr.
, vol.67
, Issue.5 SUPPL.
-
-
Rucker, R.B.1
Kosonen, T.2
Clegg, M.S.3
-
58
-
-
0000821179
-
New insights into copper, monooxygenases and peptide amidation: Structure, mechanism and function
-
PRIGGER ST, MAINS RE, EIPPER BA, AMZEL LM: New insights into copper, monooxygenases and peptide amidation: structure, mechanism and function. Cell Mol. Life Sci. (2000) 57:1236-1259.
-
(2000)
Cell Mol. Life Sci.
, vol.57
, pp. 1236-1259
-
-
Prigger, S.T.1
Mains, R.E.2
Eipper, B.A.3
Amzel, L.M.4
-
59
-
-
0019219241
-
Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome
-
ROYCE PM, CAMAKARIS J, DANKS DM: Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Biochem. J. (1980) 192(2):579-586.
-
(1980)
Biochem. J.
, vol.192
, Issue.2
, pp. 579-586
-
-
Royce, P.M.1
Camakaris, J.2
Danks, D.M.3
-
60
-
-
0021021242
-
Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome
-
PELTONEN L, KUIVANIEMI H, PALOTIE A, HORN N, KAITILA I, KIVIRIKKO KI: Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome. Biochemistry (1983) 22(26):6156-6163.
-
(1983)
Biochemistry
, vol.22
, Issue.26
, pp. 6156-6163
-
-
Peltonen, L.1
Kuivaniemi, H.2
Palotie, A.3
Horn, N.4
Kaitila, I.5
Kivirikko, K.I.6
-
61
-
-
0022219642
-
Type IX Ehlers-Danlos syndrome and Menkes syndrome: The decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein
-
KUIVANIEMI H, PELTONEN L, KIVIRIKKO KI: Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein. Am. J. Hum. Genet. (1985) 37(4):798-808.
-
(1985)
Am. J. Hum. Genet.
, vol.37
, Issue.4
, pp. 798-808
-
-
Kuivaniemi, H.1
Peltonen, L.2
Kivirikko, K.I.3
-
62
-
-
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(2):325-329.
-
(1993)
Arch. Biochem. Biophys.
, vol.301
, Issue.2
, pp. 325-329
-
-
Gacheru, S.1
Mcgee, C.2
Uriu-Hare, J.Y.3
-
63
-
-
0029940562
-
Expression of mRNAs for lysyl oxidase and Type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reaction
-
KEMPPAINEN R, HAMALAINEN ER, KUIVANIEMI H, TROMP G, PIHLAJANIEMI TKIVIRIKKO KI: Expression of mRNAs for lysyl oxidase and Type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reaction. Arch. Biochem. Biophys. (1996) 328(1):101-106.
-
(1996)
Arch. Biochem. Biophys.
, vol.328
, Issue.1
, pp. 101-106
-
-
Kemppainen, R.1
Hamalainen, E.R.2
Kuivaniemi, H.3
Tromp, G.4
Pihlajaniemi, T.5
Kivirikko, K.I.6
-
64
-
-
0001139290
-
Treatment of Wilson and Menkes Disease
-
SARKER B: Treatment of Wilson and Menkes Disease. Chem. Rev. (1999) 99:2535-2544.
-
(1999)
Chem. Rev.
, vol.99
, pp. 2535-2544
-
-
Sarker, B.1
-
65
-
-
0032783060
-
Clinical manifestations and treatment of Menkes disease and its variants
-
KODAMA H, MURATA Y, KOBAYASHI M: Clinical manifestations and treatment of Menkes disease and its variants. Pediatr. Int. (1999) 41(4):423-429.
-
(1999)
Pediatr. Int.
, vol.41
, Issue.4
, pp. 423-429
-
-
Kodama, H.1
Murata, Y.2
Kobayashi, M.3
-
66
-
-
0023870629
-
Catecholaminc metabolism in kinky hair disease
-
HOELDTKE RD, CAVANAUGH ST, HUGHES JD, MATTIS-GRAVES K, HOBNELL E, GROVER WD: Catecholaminc metabolism in kinky hair disease. Pediatr. Neurol. (1988) 4(1):23-26.
-
(1988)
Pediatr. Neurol.
, vol.4
, Issue.1
, pp. 23-26
-
-
Hoeldtke, R.D.1
Cavanaugh, S.T.2
Hughes, J.D.3
Mattis-Graves, K.4
Hobnell, E.5
Grover, W.D.6
-
67
-
-
0029616291
-
Early copper therapy in classic Menkes disease patients with a novel splicing mutation
-
KALER SG, BUIST NR, HOLMES CS, GOLDSTEIN DS, MILLER RC, GAHL WA: Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann. Neurol. (1995) 38(6):921-928.
-
(1995)
Ann. Neurol.
, vol.38
, Issue.6
, pp. 921-928
-
-
Kaler, S.G.1
Buist, N.R.2
Holmes, C.S.3
Goldstein, D.S.4
Miller, R.C.5
Gahl, W.A.6
-
68
-
-
0030002098
-
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion
-
KALER SG, DAS S, LEVINSON B et al.: Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. Biochem. Mol. Med. (1996) 57(1):37-46.
-
(1996)
Biochem. Mol. Med.
, vol.57
, Issue.1
, pp. 37-46
-
-
Kaler, S.G.1
Das, S.2
Levinson, B.3
-
69
-
-
0032485513
-
Early treatment of Menkes disease with parenteral copper-histidine: Long-term follow-up of four treated patients
-
CHRISTODOULOU J, DANKS DM, SARKAR B et al.: Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am. J. Med. Genet. (1998) 76(2):154-164.
-
(1998)
Am. J. Med. Genet.
, vol.76
, Issue.2
, pp. 154-164
-
-
Christodoulou, J.1
Danks, D.M.2
Sarkar, B.3
-
70
-
-
0021019230
-
Congenital copper deficiency: Copper therapy and dopamine-beta-hydroxylase activity in the mottled (brindled) mouse
-
WENK G, SUZUKI K: Congenital copper deficiency: copper therapy and dopamine-beta-hydroxylase activity in the mottled (brindled) mouse. J. Neurochem. (1983) 41(6):1648-1652.
-
(1983)
J. Neurochem.
, vol.41
, Issue.6
, pp. 1648-1652
-
-
Wenk, G.1
Suzuki, K.2
-
71
-
-
0027203969
-
Clinical and biochemical consequences of copper-histidine therapy in patients disease
-
KREUDER JK, OTTEN A, FUDER H et al.: Clinical and biochemical consequences of copper-histidine therapy in patients disease. Eur. J. Pediatr. (1993) 152:828-832.
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 828-832
-
-
Kreuder, J.K.1
Otten, A.2
Fuder, H.3
-
73
-
-
0023696983
-
Variability in clinical expression of Menkes syndrome
-
GERDES AM, TØNNESEN T, PERGAMENT E et al.: Variability in clinical expression of Menkes syndrome. Eur. J. Pediatr. (1988) 148(2):132-135.
-
(1988)
Eur. J. Pediatr.
, vol.148
, Issue.2
, pp. 132-135
-
-
Gerdes, A.M.1
Tønnesen, T.2
Pergament, E.3
-
74
-
-
0023853131
-
Life-span and Menkes kinky hair syndrome: Report of a 13-year course of this disease
-
SANDER C, NIEDERHOFF H, HORN N: Life-span and Menkes kinky hair syndrome: report of a 13-year course of this disease. Clin. Genet. (1988) 33(3):228-233.
-
(1988)
Clin. Genet.
, vol.33
, Issue.3
, pp. 228-233
-
-
Sander, C.1
Niederhoff, H.2
Horn, N.3
-
76
-
-
0029792846
-
Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype
-
PROUD VK, MUSSELL HG, KALER SG, YOUNG DW, PERCY AK: Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. Am. J. Med. Genet. (1996) 65(1):44-51.
-
(1996)
Am. J. Med. Genet.
, vol.65
, Issue.1
, pp. 44-51
-
-
Proud, V.K.1
Mussell, H.G.2
Kaler, S.G.3
Young, D.W.4
Percy, A.K.5
-
77
-
-
0023830814
-
Brain tissue accumulates 67copper by two ligand-dependent saturable processes. A high affinity, low capacity and a low affinity, high capacity process
-
HARTTER DE, BARNEA A: Brain tissue accumulates 67copper by two ligand-dependent saturable processes. A high affinity, low capacity and a low affinity, high capacity process. J. Biol. Chem. (1988)263:799-805.
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 799-805
-
-
Hartter, D.E.1
Barnea, A.2
-
78
-
-
0025197457
-
Uptake of 67copper complexed to 3H-histidine by brain hypothalamic slices: Evidence that dissociation of the complex is not the only factor determining 67copper uptake
-
BARNEA A, KATZ BM: Uptake of 67copper complexed to 3H-histidine by brain hypothalamic slices: evidence that dissociation of the complex is not the only factor determining 67copper uptake. J. Inorg. Biochem. (1990) 40(1):81-93.
-
(1990)
J. Inorg. Biochem.
, vol.40
, Issue.1
, pp. 81-93
-
-
Barnea, A.1
Katz, B.M.2
-
79
-
-
0025126198
-
The ligand specificity for uptake of complexed copper-67 by brain hypothalamic tissue is a function of copper concentration and copper:ligand molar ratio
-
KATZ BM, BARNEA A: The ligand specificity for uptake of complexed copper-67 by brain hypothalamic tissue is a function of copper concentration and copper:ligand molar ratio. J. Biol. Chem. (1990) 265:2017-2021.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 2017-2021
-
-
Katz, B.M.1
Barnea, A.2
-
80
-
-
0024990371
-
Further characterization of the process of in vitro uptake of radiolabeled copper by the rat brain
-
BARNEA A, HARTTER DE, CHO G, BHASKER KR, KATZ BM, EDWARDS MD: Further characterization of the process of in vitro uptake of radiolabeled copper by the rat brain. J. Inorg. Biochem. (1990) 40(2):103-110.
-
(1990)
J. Inorg. Biochem.
, vol.40
, Issue.2
, pp. 103-110
-
-
Barnea, A.1
Hartter, D.E.2
Cho, G.3
Bhasker, K.R.4
Katz, B.M.5
Edwards, M.D.6
-
81
-
-
0016440727
-
Copper infusion therapy in trichopoliodystrophy
-
GROVER WD, SCRUTTON MC: Copper infusion therapy in trichopoliodystrophy. J. Pediatr. (1975) 86(2):216-220.
-
(1975)
J. Pediatr.
, vol.86
, Issue.2
, pp. 216-220
-
-
Grover, W.D.1
Scrutton, M.C.2
-
82
-
-
0026072231
-
Correction of cerebrospinal fluid copper in Menkes kinky hair disease
-
KOLLROS PR, DICK RD, BREWER GJ: Correction of cerebrospinal fluid copper in Menkes kinky hair disease. Pediatr. Neurol. (1991) 7:305-307.
-
(1991)
Pediatr. Neurol.
, vol.7
, pp. 305-307
-
-
Kollros, P.R.1
Dick, R.D.2
Brewer, G.J.3
-
83
-
-
0027203969
-
Clinical and biochemical consequences of copper-histidine therapy in Menkes disease
-
KREUDER J: OTTEN A, FUDER H, TÜMER Z, TØNNESEN T, HORN N, DRALLE D: Clinical and biochemical consequences of copper-histidine therapy in Menkes disease. Eur. J. Pediatr. (1993) 152(10):828-832.
-
(1993)
Eur. J. Pediatr.
, vol.152
, Issue.10
, pp. 828-832
-
-
Kreuder, J.1
Otten, A.2
Fuder, H.3
Tümer, Z.4
Tønnesen, T.5
Horn, N.6
Dralle, D.7
-
84
-
-
0023785090
-
Menkes' disease: Long-term treatment with copper and D-penicillamine
-
NADAL D, BAERLOCHER K: Menkes' disease: long-term treatment with copper and D-penicillamine. Eur. J. Pediatr. (1988) 147(6):621-625.
-
(1988)
Eur. J. Pediatr.
, vol.147
, Issue.6
, pp. 621-625
-
-
Nadal, D.1
Baerlocher, K.2
-
85
-
-
0024118122
-
A case of Menkes disease effectively treated with tocopherol acetate
-
TADA H, TANAKA M, INADA E et al.: A case of Menkes disease effectively treated with tocopherol acetate. No To Hattatsu (1988) 20(6):514-516.
-
(1988)
No to Hattatsu
, vol.20
, Issue.6
, pp. 514-516
-
-
Tada, H.1
Tanaka, M.2
Inada, E.3
-
86
-
-
0024793163
-
Vitamin C treatment in Menkes' disease: Failure to affect biochemical and clinical parameters
-
DE GROOT CJ, WIJBURG FA, BARTH PG et al.: Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters. J. Inherit. Metab. Dis. (1989) 12(Suppl. 2):389-392.
-
(1989)
J. Inherit. Metab. Dis.
, vol.12
, Issue.2 SUPPL.
, pp. 389-392
-
-
De Groot, C.J.1
Wijburg, F.A.2
Barth, P.G.3
-
88
-
-
0029685249
-
Early copper-histidine treatment for Menkes disease
-
TüMER Z, HORN N, TØNNESEN T, CHRISTODOULOU J, CLARKE JT, SARKAR B: Early copper-histidine treatment for Menkes disease. Nature Genet. (1996) 12(1):11-3.
-
(1996)
Nature Genet.
, vol.12
, Issue.1
, pp. 11-13
-
-
Tümer, Z.1
Horn, N.2
Tønnesen, T.3
Christodoulou, J.4
Clarke, J.T.5
Sarkar, B.6
-
89
-
-
85080852195
-
Early copper histidine therapy in classic Menkes disease
-
SARKAR B: Early copper histidine therapy in classic Menkes disease. Ann. Neurol. (1997) 41(1):134-136.
-
(1997)
Ann. Neurol.
, vol.41
, Issue.1
, pp. 134-136
-
-
Sarkar, B.1
-
90
-
-
0031050483
-
Copper transport and its alterations in Menkes and Wilson diseases
-
DIDONATO M, SARKAR B: Copper transport and its alterations in Menkes and Wilson diseases. Biochim. Biophys. Acta(1997) 1360(1):3-16.
-
(1997)
Biochim. Biophys. Acta
, vol.1360
, Issue.1
, pp. 3-16
-
-
Didonato, M.1
Sarkar, B.2
-
91
-
-
0031980440
-
Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency
-
KALER SG: Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Am. J. Clin. Nutr. (1998) 67(Suppl. 5):1029S-1034S.
-
(1998)
Am. J. Clin. Nutr.
, vol.67
, Issue.5 SUPPL.
-
-
Kaler, S.G.1
-
92
-
-
0025936399
-
Genetic expression of Menkes disease in cultured astrocytes of the macular mouse
-
KODAMA H, MEGURO Y, ABE T, RAYNER MH, SUZUKI KT, KOBAYASHI S, NISHIMURA M: Genetic expression of Menkes disease in cultured astrocytes of the macular mouse. J. Inherit. Metab. Dis. (1991) 14(6):896-901.
-
(1991)
J. Inherit. Metab. Dis.
, vol.14
, Issue.6
, pp. 896-901
-
-
Kodama, H.1
Meguro, Y.2
Abe, T.3
Rayner, M.H.4
Suzuki, K.T.5
Kobayashi, S.6
Nishimura, M.7
-
93
-
-
0027236562
-
Recent developments in Menkes disease
-
KODAMA H: Recent developments in Menkes disease. J. Inherit. Metab. Dis. (1993) 16:791-799.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 791-799
-
-
Kodama, H.1
-
94
-
-
0031879870
-
Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease
-
MURATA Y, KODAMA H, MORI Y, KOBAYASHI M, ABE T: Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease. J. Inherit. Metab. Dis. (1998) 21(3):199-202.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, Issue.3
, pp. 199-202
-
-
Murata, Y.1
Kodama, H.2
Mori, Y.3
Kobayashi, M.4
Abe, T.5
-
95
-
-
0020064391
-
Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice
-
ROYCE PM, CAMAKARIS J, MANN JR, DANKS DM: Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice. Biochem. J. (1982) 202(2):369-371.
-
(1982)
Biochem. J.
, vol.202
, Issue.2
, pp. 369-371
-
-
Royce, P.M.1
Camakaris, J.2
Mann, J.R.3
Danks, D.M.4
-
96
-
-
0035152862
-
Metabolism of a disulfiram metabolite, S-methyl N,N-diethyldithiocarbamate, by flavin monooxygenase in human renal microsomes
-
PIKE MG, MAYS DC, MACOMBER DW, LIPSKY JJ: Metabolism of a disulfiram metabolite, S-methyl N,N-diethyldithiocarbamate, by flavin monooxygenase in human renal microsomes. Drug Metab. Dispos. (2001) 29(2):127-132.
-
(2001)
Drug Metab. Dispos.
, vol.29
, Issue.2
, pp. 127-132
-
-
Pike, M.G.1
Mays, D.C.2
Macomber, D.W.3
Lipsky, J.J.4
-
97
-
-
0005810729
-
Metabolic balance studies in hepatolenticular degeneration treated with diethyldithiocarbamate
-
SUNDERMAN FJ, WHITE JSUNDERMAN F: Metabolic balance studies in hepatolenticular degeneration treated with diethyldithiocarbamate. Am. J. Med. (1963) 34:875-888.
-
(1963)
Am. J. Med.
, vol.34
, pp. 875-888
-
-
Sunderman, F.J.1
White, J.2
Sunderman, F.3
-
98
-
-
0025361607
-
Inhibition of HIV progression by dithiocaib. German DTC Study Group
-
REISINGER EC, KERN P, ERNST M, BOCK P, FLAD HD, DIETRICH M: Inhibition of HIV progression by dithiocaib. German DTC Study Group. Lancet (1990) 335(8691):679-682.
-
(1990)
Lancet
, vol.335
, Issue.8691
, pp. 679-682
-
-
Reisinger, E.C.1
Kern, P.2
Ernst, M.3
Bock, P.4
Flad, H.D.5
Dietrich, M.6
-
99
-
-
0025959545
-
Therapeutic properties of sodium diethyldithiocarbamate: Its role as an inhibitor in the progression of AIDS
-
SUNDERMAN FW: Therapeutic properties of sodium diethyldithiocarbamate: its role as an inhibitor in the progression of AIDS. Ann. Clin. Lab. Sci. (1991) 21(1):70-81.
-
(1991)
Ann. Clin. Lab. Sci.
, vol.21
, Issue.1
, pp. 70-81
-
-
Sunderman, F.W.1
-
100
-
-
85047690777
-
Degradation and inactivation of antitumor drugs
-
BENVENUTO JA, CONNOR TH, MONTEITH DK et al.: Degradation and inactivation of antitumor drugs. J. Pharm. Sci. (1993) 82(10):988-991.
-
(1993)
J. Pharm. Sci.
, vol.82
, Issue.10
, pp. 988-991
-
-
Benvenuto, J.A.1
Connor, T.H.2
Monteith, D.K.3
-
101
-
-
0028561855
-
A dose-ranging pharmacokinetics study of sodium diethyldithiocarbamate in normal healthy volunteers
-
AWNI WM, HOFF JV, SHAPIRO BE, HALSTENSON CE: A dose-ranging pharmacokinetics study of sodium diethyldithiocarbamate in normal healthy volunteers. J. Clin. Pharmacol. (1994) 34:1183-1190.
-
(1994)
J. Clin. Pharmacol.
, vol.34
, pp. 1183-1190
-
-
Awni, W.M.1
Hoff, J.V.2
Shapiro, B.E.3
Halstenson, C.E.4
-
102
-
-
0030911466
-
Inhibitory effects of seven organosulphur compounds on clinical isolates of Candida species in vitro
-
SHAH DT, WALKER EM, JONES MM, SINGH PK, LARSEN B: Inhibitory effects of seven organosulphur compounds on clinical isolates of Candida species in vitro. Ann. Clin. Lab. Sci. (1997) 27(4):282-286.
-
(1997)
Ann. Clin. Lab. Sci.
, vol.27
, Issue.4
, pp. 282-286
-
-
Shah, D.T.1
Walker, E.M.2
Jones, M.M.3
Singh, P.K.4
Larsen, B.5
-
103
-
-
0025184431
-
Effects of chelators on copper therapy of macular mouse, a model animal of Menkes' kinky disease
-
TANAKA K, KOBAYASHI K, FUJITA Y, FUKUHARA C, ONOSAKA SMIN K: Effects of chelators on copper therapy of macular mouse, a model animal of Menkes' kinky disease. Res. Commun. Chem. Pathol. Pharmacol. (1990) 69(2):217-227.
-
(1990)
Res. Commun. Chem. Pathol. Pharmacol.
, vol.69
, Issue.2
, pp. 217-227
-
-
Tanaka, K.1
Kobayashi, K.2
Fujita, Y.3
Fukuhara, C.4
Onosaka Smin, K.5
-
105
-
-
0021844140
-
Reversible, late-onset disulfiram-induced neuropathy and encephalopathy
-
BORRETT D, ASHBY P, BILBAO J, CARLEN P: Reversible, late-onset disulfiram-induced neuropathy and encephalopathy. Ann. Neurol. (1985)17:396-399.
-
(1985)
Ann. Neurol.
, vol.17
, pp. 396-399
-
-
Borrett, D.1
Ashby, P.2
Bilbao, J.3
Carlen, P.4
-
107
-
-
0032613176
-
Suicidal self poisoning with disulfiram in a 15-year old boy with resulting encephalopathy
-
GOSZCZ H, GROSZEK B, URBANIK A, SZCZEPANSKA L, WIERNIKOWSKI A: Suicidal self poisoning with disulfiram in a 15-year old boy with resulting encephalopathy. Przegl. Lek. (1999)56:465-468.
-
(1999)
Przegl. Lek.
, vol.56
, pp. 465-468
-
-
Goszcz, H.1
Groszek, B.2
Urbanik, A.3
Szczepanska, L.4
Wiernikowski, A.5
-
108
-
-
0033776137
-
MRI findings in a case of late onset disulfiram-induced neurotoxicity
-
BOUKRICHE Y, WEISSER I, AUBERT P, MASSON C: MRI findings in a case of late onset disulfiram-induced neurotoxicity. J. Neurol. (2000)247:714-715.
-
(2000)
J. Neurol.
, vol.247
, pp. 714-715
-
-
Boukriche, Y.1
Weisser, I.2
Aubert, P.3
Masson, C.4
-
109
-
-
0035138011
-
Differentiation of disulfiram effects on central catecholamines and hepatic ethanol metabolism
-
KARAMANAKOS PN, PAPPAS P, STEPHANOU P, MARSELOS M: Differentiation of disulfiram effects on central catecholamines and hepatic ethanol metabolism. Pharmacol. Toxicol. (2001) 88:106-110.
-
(2001)
Pharmacol. Toxicol.
, vol.88
, pp. 106-110
-
-
Karamanakos, P.N.1
Pappas, P.2
Stephanou, P.3
Marselos, M.4
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