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
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## 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
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)