Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia.

scientific article published in April 1993

Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/BF01956756
P698PubMed publication ID8482292

P2093author name stringH Kodama
J Kohyama
M Shimohira
Y Iwakawa
P2860cites workCopper infusion therapy in trichopoliodystrophyQ28337078
Genetic expression of Menkes disease in cultured astrocytes of the macular mouseQ28590524
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degenerationQ34263233
Menkes disease: a biochemical abnormality in cultured human fibroblastsQ35986003
Letter: Intravenous copper in Menkes' kinky-hair syndromeQ39332728
Cell culture studies of Menkes kinky hair diseaseQ42442478
A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolismQ47911482
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 syndromeQ48663194
Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndromeQ48703844
Menkes' kinky-hair syndromeQ48765424
Atypical Menkes steely hair disease.Q52069823
An unusual neurological disorder of copper metabolism clinically resembling Wilson's disease but biochemically a distinct entityQ67429641
Menkes' disease: long-term treatment with copper and D-penicillamineQ67953198
Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndromeQ69364329
An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes diseaseQ70663854
Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutantsQ71232454
A mild form of Menkes steely hair syndromeQ71442810
P433issue4
P921main subjectsiblingQ31184
P304page(s)368-371
P577publication date1993-04-01
P1433published inEuropean Journal of PediatricsQ15755736
P1476titleSibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia.
P478volume152

Reverse relations

Q44289091Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypescites workP2860

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