Inborn errors of metabolism in neurology (Wilson's disease, Refsum's disease and lipidoses).

Proceedings of the Royal Society of Medicine ·Vol. 64 ·No. 3 ·1971-03-00 ·Pages 313-22

Cumings JN

Abstract

暂无摘要

MeSH Terms

Adolescent Adult Cerebral Cortex/analysis Ceruloplasmin Cholesterol/analysis Copper/blood,metabolism,urine Dimercaprol/therapeutic use Fatty Acids/analysis,blood,cerebrospinal fluid,metabolism Female Gangliosides/metabolism Hepatolenticular Degeneration/enzymology,metabolism Humans Kidney/analysis Lipidoses/enzymology,metabolism Liver/analysis Male Metabolism, Inborn Errors Mixed Function Oxygenases/metabolism Myocardium/analysis Nervous System Diseases/metabolism Optic Nerve/analysis Penicillamine/therapeutic use Peripheral Nerves/analysis Refsum Disease/metabolism Spleen/analysis

Chemicals

Fatty Acids Gangliosides Dimercaprol Copper Cholesterol Mixed Function Oxygenases Ceruloplasmin Penicillamine

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Cumings J N

References (17)

17 references, click to expand

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Refsum's disease: nature of the enzyme defect.
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How repressor molecules function.
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Article Info

Journal

Proceedings of the Royal Society of Medicine

Abbr.

Proc R Soc Med

ISSN

0035-9157

Published

1971-03-00

Pages

313-22

Language

English

Region

England

NLM ID

7505890

PMCID

PMC1811522

Subset

External Links

PubMed source PMC Full Text

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Inborn errors of metabolism in neurology (Wilson's disease, Refsum's disease and lipidoses).

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