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Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients

✍ Scribed by Kim, Ja Hye; Lee, Beom Hee; Kim, Yoo-Mi; Choi, Jin-Ho; Kim, Gu-Hwan; Cheon, Chong Kun; Yoo, Han-Wook

Book ID
125365719
Publisher
Springer
Year
2014
Tongue
English
Weight
824 KB
Volume
30
Category
Article
ISSN
0885-7490

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## Abstract To correlate genotype with response to early copper histidine therapy in Menkes disease, an X‐linked disorder of copper transport, we performed mutational analysis in 2 related males who began treatment at the age of 10 days and prenatally at 32 weeks' gestation, respectively. A G to T