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[Copper metabolism and genetic disorders].
Nihon Rinsho. 2016 Jul; 74(7):1151-5.NR

Abstract

Copper is one of essential trace elements. Copper deficiency lead to growth and developmental failure and/or neurological dysfunction. However, excess copper is also problems for human life. There are two disorders of inborn error of copper metabolism, Menkes disease and Wilson disease. Menkes disease is an X linked recessive disorder with copper deficiency and Wilson disease is an autosomal recessive disorder with copper accumulation. These both disorders result from the defective functioning of copper transport P-type ATPase, ATP7A of Menkes disease and ATP7B of Wilson disease. In this paper, the author describes about copper metabolism of human, and clinical feature, diagnosis and treatment of Menkes disease and Wilson disease.

Authors

No affiliation info available

Pub Type(s)

Journal Article

Language

jpn

PubMed ID

27455805

Citation

Shimizu, Norikazu. "[Copper Metabolism and Genetic Disorders]." Nihon Rinsho. Japanese Journal of Clinical Medicine, vol. 74, no. 7, 2016, pp. 1151-5.
Shimizu N. [Copper metabolism and genetic disorders]. Nippon Rinsho. 2016;74(7):1151-5.
Shimizu, N. (2016). [Copper metabolism and genetic disorders]. Nihon Rinsho. Japanese Journal of Clinical Medicine, 74(7), 1151-5.
Shimizu N. [Copper Metabolism and Genetic Disorders]. Nippon Rinsho. 2016;74(7):1151-5. PubMed PMID: 27455805.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Copper metabolism and genetic disorders]. A1 - Shimizu,Norikazu, PY - 2016/7/27/entrez PY - 2016/7/28/pubmed PY - 2016/12/15/medline SP - 1151 EP - 5 JF - Nihon rinsho. Japanese journal of clinical medicine JO - Nippon Rinsho VL - 74 IS - 7 N2 - Copper is one of essential trace elements. Copper deficiency lead to growth and developmental failure and/or neurological dysfunction. However, excess copper is also problems for human life. There are two disorders of inborn error of copper metabolism, Menkes disease and Wilson disease. Menkes disease is an X linked recessive disorder with copper deficiency and Wilson disease is an autosomal recessive disorder with copper accumulation. These both disorders result from the defective functioning of copper transport P-type ATPase, ATP7A of Menkes disease and ATP7B of Wilson disease. In this paper, the author describes about copper metabolism of human, and clinical feature, diagnosis and treatment of Menkes disease and Wilson disease. SN - 0047-1852 UR - https://www.unboundmedicine.com/medline/citation/27455805/[Copper_metabolism_and_genetic_disorders]_ L2 - https://medlineplus.gov/wilsondisease.html DB - PRIME DP - Unbound Medicine ER -
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