Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease. [PDF]
Skin Appendage Disord, 2022 Sáez-de-Ocariz M +5 more
europepmc +1 more source
Abnormal Development of Neural Stem Cell Niche in the Dentate Gyrus of Menkes Disease. [PDF]
Int J Stem Cells, 2022 Cho SK +8 more
europepmc +1 more source
Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms-a case report. [PDF]
Transl Pediatr, 2021 Li J +5 more
europepmc +1 more source
Development of therapeutic copper delivery agents for Menkes disease
Menkes disease does not currently have an effective treatment. The disease is caused by genetic defects that reduce copper transport into the brain and cause mental retardation and death.
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, 2002 Copper-regulated trafficking of the Menkes disease copper ATPases is associated with the formation of a phosphorylated ...
J Camakaris (13278537) +8 more
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Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease. [PDF]
Front Genet, 2022 Zhi X +8 more
europepmc +1 more source
, 1997 A phosphoglycerate mutase brain isoform (PGAM 1) pseudogene is localized within the human Menkes disease gene (ATP7 ...
TW Glover (14575286) +2 more
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, 2017 A 37-year-old Menkes disease patient—Residual ATP7A activity and early copper administration as key factors in beneficial ...
LB Møller (14473317) +8 more
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Decreased Expression of the Slc31a1 Gene and Cytoplasmic Relocalization of Membrane CTR1 Protein in Renal Epithelial Cells: A Potent Protective Mechanism against Copper Nephrotoxicity in a Mouse Model of Menkes Disease. [PDF]
Int J Mol Sci, 2022 Haberkiewicz O +12 more
europepmc +1 more source
Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review. [PDF]
BMJ Case Rep, 2022 Panichsillaphakit E +3 more
europepmc +1 more source