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Clinical and biochemical consequences of copper-histidine therapy in Menkes disease

✍ Scribed by J. Kreuder; A. Otten; H. Fuder; Z. Tümer; T. Tønnesen; N. Horn; D. Dralle


Publisher
Springer
Year
1993
Tongue
English
Weight
858 KB
Volume
152
Category
Article
ISSN
0340-6997

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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)