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The following term was not found in PubMed: arthrogryposis-anterior
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An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z. Tümer Z. Hum Mutat. 2013 Mar;34(3):417-29. doi: 10.1002/humu.22266. Hum Mutat. 2013. PMID: 23281160 Review.
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. ...A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms. ...
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. ...A cure for the disease does not exist, …
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.
Folkmann AW, Dawson TR, Wente SR. Folkmann AW, et al. Adv Biol Regul. 2014 Jan;54:74-91. doi: 10.1016/j.jbior.2013.10.002. Epub 2013 Nov 13. Adv Biol Regul. 2014. PMID: 24275432 Free PMC article. Review.
During export, Gle1 in conjunction with inositol hexakisphosphate (IP6) spatially regulates the activity of the DEAD-box protein Dbp5 at the NPC cytoplasmic face. GLE1 mutations are causally linked to the human diseases lethal congenital contracture syndrome
During export, Gle1 in conjunction with inositol hexakisphosphate (IP6) spatially regulates the activity of the DEAD-box protein Dbp5 at the …
Menkes syndrome and animal models.
Mercer JF. Mercer JF. Am J Clin Nutr. 1998 May;67(5 Suppl):1022S-1028S. doi: 10.1093/ajcn/67.5.1022S. Am J Clin Nutr. 1998. PMID: 9587146 Review.
Milder variants exist, including occipital horn syndrome, which is primarily a connective tissue disorder. Mutations of the mottled locus in mice produce a wide range of copper-deficient phenotypes that are good models for human diseases. ...Patients with Men …
Milder variants exist, including occipital horn syndrome, which is primarily a connective tissue disorder. Mutations of the mo …
Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years.
Vuopala K, Leisti J, Herva R. Vuopala K, et al. Neuropediatrics. 1994 Dec;25(6):308-15. doi: 10.1055/s-2008-1073045. Neuropediatrics. 1994. PMID: 7770128 Review.
Sixty-seven cases were neurogenic in origin, including forty-one with the lethal congenital contracture syndrome (LCCS, McKusick 253310), fifteen with milder anterior horn cell involvement, and ten with dysgenesis and degeneration of the CNS. ...Apart …
Sixty-seven cases were neurogenic in origin, including forty-one with the lethal congenital contracture syndrome (LCCS, McKusi …