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Possibility of a menkes-like disorder of copper metabolism in a girl

✍ Scribed by A. Favier; C. Boujet; A. Joannard


Book ID
105317038
Publisher
Springer
Year
1983
Tongue
English
Weight
124 KB
Volume
6
Category
Article
ISSN
0141-8955

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MENKES' DISEASE: A DISORDER OF ZINC META
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Menkes disease is a rare X-linked recessive disorder of copper metabolism, characterised by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We report on a girl with classic Menkes disease, carrying a de novo balanced translocation 46,X,t(X;13)(q13.3; q14.3)

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✍ Dr. Roland F. Bonewitz Jr.; R. Rodney Howell πŸ“‚ Article πŸ“… 1981 πŸ› John Wiley and Sons 🌐 English βš– 754 KB

## Abstract A metallothionein‐like protein (MTP) is synthesized in normal diploid human skin fibroblasts cultured in Zn‐ or Cu‐supplemented medium. Synthesis of MTP is not detected in cells cultured without metal supplementation of complete tissue‐culture medium. Cultured fibroblasts from patients