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In utero copper treatment for Menkes disease associated with a severe ATP7A mutation

✍ Scribed by Marie Reine Haddad; Charles J. Macri; Courtney S. Holmes; David S. Goldstein; Beryl E. Jacobson; Jose A. Centeno; Edwina J. Popek; Willam A. Gahl; Stephen G. Kaler


Book ID
118507118
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
426 KB
Volume
107
Category
Article
ISSN
1096-7192

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πŸ“œ SIMILAR VOLUMES


Early copper therapy in classic Menkes d
✍ Dr Stephen G. Kaler; Neil R. M. Buist; Courtney S. Holmes; David S. Goldstein; R πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 911 KB

## 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