-
1
-
-
33646899382
-
Nutritional evaluation in neonatology: which place for Dual Energy X Ray Absorbtiometry (DEXA)?
-
Picaud J.C. Nutritional evaluation in neonatology: which place for Dual Energy X Ray Absorbtiometry (DEXA)?. Arch Pediatr 13 (2006) 781-783
-
(2006)
Arch Pediatr
, vol.13
, pp. 781-783
-
-
Picaud, J.C.1
-
2
-
-
78651124591
-
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration
-
Menkes J.H., Alter M., Steigleder G.K., et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 29 (1962) 764-779
-
(1962)
Pediatrics
, vol.29
, pp. 764-779
-
-
Menkes, J.H.1
Alter, M.2
Steigleder, G.K.3
-
3
-
-
0032553535
-
Correlation of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases
-
La Fontaine S.L., Firth S.D., Camakaris J., et al. Correlation of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases. J Biol Chem 273 (1998) 31375-31380
-
(1998)
J Biol Chem
, vol.273
, pp. 31375-31380
-
-
La Fontaine, S.L.1
Firth, S.D.2
Camakaris, J.3
-
5
-
-
0037656489
-
Genetic defects in copper metabolism
-
Shim H., and Harris Z.L. Genetic defects in copper metabolism. J Nutr 133 (2003) 1527S-1531S
-
(2003)
J Nutr
, vol.133
-
-
Shim, H.1
Harris, Z.L.2
-
6
-
-
0021858066
-
Absorption, transport, and hepatic metabolism of copper and zinc: special reference to metallothionein and ceruloplasmin
-
Cousins R.J. Absorption, transport, and hepatic metabolism of copper and zinc: special reference to metallothionein and ceruloplasmin. Physiol Rev 65 (1985) 238-309
-
(1985)
Physiol Rev
, vol.65
, pp. 238-309
-
-
Cousins, R.J.1
-
7
-
-
0036821477
-
Hair as a diagnostic tool in dysmorphology
-
Silengo M., Valenzise M., Sorasio L., et al. Hair as a diagnostic tool in dysmorphology. Clin Genet 62 (2002) 270-272
-
(2002)
Clin Genet
, vol.62
, pp. 270-272
-
-
Silengo, M.1
Valenzise, M.2
Sorasio, L.3
-
8
-
-
0036708603
-
Pamidronate treatment improves bone mineral density in children with Menkes disease
-
Kanumakala S., Boneh A., and Zacharin M. Pamidronate treatment improves bone mineral density in children with Menkes disease. J Inherit Metab Dis 25 (2002) 391-398
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 391-398
-
-
Kanumakala, S.1
Boneh, A.2
Zacharin, M.3
-
9
-
-
0034025971
-
Congenital skull fracture as a presentation of Menkes disease
-
Ubhi T., Reece A., and Craig A. Congenital skull fracture as a presentation of Menkes disease. Dev Med Child Neurol 42 (2000) 347-348
-
(2000)
Dev Med Child Neurol
, vol.42
, pp. 347-348
-
-
Ubhi, T.1
Reece, A.2
Craig, A.3
-
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., et al. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 3 (1993) 7-13
-
(1993)
Nat Genet
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
-
12
-
-
0032615009
-
Molecular mechanisms of copper metabolism and the role of the Menkes disease protein
-
Harrison M.D., and Dameron C.T. Molecular mechanisms of copper metabolism and the role of the Menkes disease protein. J Biochem Mol Toxicol 13 (1999) 93-106
-
(1999)
J Biochem Mol Toxicol
, vol.13
, pp. 93-106
-
-
Harrison, M.D.1
Dameron, C.T.2
-
13
-
-
0034926276
-
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease
-
Dagenais S.L., Adam A.N., Innis J.W., et al. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Am J Hum Genet 69 (2001) 420-427
-
(2001)
Am J Hum Genet
, vol.69
, pp. 420-427
-
-
Dagenais, S.L.1
Adam, A.N.2
Innis, J.W.3
-
14
-
-
0021885918
-
Measurement of copper in chorionic villi for first-trimester diagnosis of Menkes' disease
-
Tønnesen T., Horn N., Søndergaard F., et al. Measurement of copper in chorionic villi for first-trimester diagnosis of Menkes' disease. Lancet 1 (1985) 1038-1039
-
(1985)
Lancet
, vol.1
, pp. 1038-1039
-
-
Tønnesen, T.1
Horn, N.2
Søndergaard, F.3
-
15
-
-
0033403251
-
Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens
-
Heydorn K., Damsgaard E., and Horn N. Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens. Biol Trace Elem Res 71-72 (1999) 551-561
-
(1999)
Biol Trace Elem Res
, vol.71-72
, pp. 551-561
-
-
Heydorn, K.1
Damsgaard, E.2
Horn, N.3
-
16
-
-
16244362690
-
Manufacturing and stability of copper-histidine solution for treatment of Menkes' kinky hair syndrome
-
Hoppe-Tichy T., Nguyen T.H., Hentze B.W., et al. Manufacturing and stability of copper-histidine solution for treatment of Menkes' kinky hair syndrome. Pharmazie 60 (2005) 205-207
-
(2005)
Pharmazie
, vol.60
, pp. 205-207
-
-
Hoppe-Tichy, T.1
Nguyen, T.H.2
Hentze, B.W.3
-
17
-
-
0032783060
-
Clinical manifestations and treatment of Menkes disease and its variants
-
Kodama H., Murata Y., and Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 41 (1999) 423-429
-
(1999)
Pediatr Int
, vol.41
, pp. 423-429
-
-
Kodama, H.1
Murata, Y.2
Kobayashi, M.3
|