scholarly article | Q13442814 |
P356 | DOI | 10.1007/BF01956756 |
P698 | PubMed publication ID | 8482292 |
P2093 | author name string | H Kodama | |
J Kohyama | |||
M Shimohira | |||
Y Iwakawa | |||
P2860 | cites work | Copper infusion therapy in trichopoliodystrophy | Q28337078 |
Genetic expression of Menkes disease in cultured astrocytes of the macular mouse | Q28590524 | ||
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration | Q34263233 | ||
Menkes disease: a biochemical abnormality in cultured human fibroblasts | Q35986003 | ||
Letter: Intravenous copper in Menkes' kinky-hair syndrome | Q39332728 | ||
Cell culture studies of Menkes kinky hair disease | Q42442478 | ||
A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism | Q47911482 | ||
Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509. | Q48483451 | ||
The failure of parenteral copper therapy in Menkes Kinky Hair syndrome | Q48663194 | ||
Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome | Q48703844 | ||
Menkes' kinky-hair syndrome | Q48765424 | ||
Atypical Menkes steely hair disease. | Q52069823 | ||
An unusual neurological disorder of copper metabolism clinically resembling Wilson's disease but biochemically a distinct entity | Q67429641 | ||
Menkes' disease: long-term treatment with copper and D-penicillamine | Q67953198 | ||
Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome | Q69364329 | ||
An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease | Q70663854 | ||
Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants | Q71232454 | ||
A mild form of Menkes steely hair syndrome | Q71442810 | ||
P433 | issue | 4 | |
P921 | main subject | sibling | Q31184 |
P304 | page(s) | 368-371 | |
P577 | publication date | 1993-04-01 | |
P1433 | published in | European Journal of Pediatrics | Q15755736 |
P1476 | title | Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia. | |
P478 | volume | 152 |
Q44289091 | Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes | cites work | P2860 |
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