In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
about
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse modelTandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype.L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse modelA novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes diseaseNovel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
P2860
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
@zh-hk
2012年論文
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2012年論文
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2012年论文
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2012年论文
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2012年论文
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name
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
@ast
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
@en
type
label
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
@ast
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
@en
prefLabel
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
@ast
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
@en
P2093
P2860
P1476
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
@en
P2093
Beryl E Jacobson
Charles J Macri
Courtney S Holmes
David S Goldstein
Edwina J Popek
Jose A Centeno
Marie Reine Haddad
Stephen G Kaler
Willam A Gahl
P2860
P304
P356
10.1016/J.YMGME.2012.05.008
P577
2012-05-18T00:00:00Z