Results 121 to 130 of about 5,184,226 (184)

Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease. Reply. [PDF]

J Clin Invest
Gohil VM, Petris MJ, Palau F.
europepmc   +1 more source

Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease. [PDF]

J Clin Invest
Kaler SG.
europepmc   +1 more source

FDA approval of copper histidinate (Zycubo) for Menkes disease: a therapeutic breakthrough in a rare pediatric neurodegenerative disorder. [PDF]

Ann Med Surg (Lond)
Ghani MH, Ahsan M, Raza AA, Samadi A.
europepmc   +1 more source

Safety and efficacy of droxidopa for dysautonomia in adults with Menkes disease and occipital horn syndrome in the USA: a randomised phase 1/2a crossover trial. [PDF]

EClinicalMedicine
Kaler MM, Brock G, Jeanty CJ, Iammarino MA, Hampton KA, Pham MT, Sabo BT, Lowes LP, Sullivan P, Goldstein DS, Kaler SG.   +10 more
europepmc   +1 more source

Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease. [PDF]

J Clin Invest
Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera I, Artuch R, Jou C, Roldán M, Arango-Sancho P, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Farré R, Pijuan J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM, Palau F.   +31 more
europepmc   +1 more source

Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease

, 1999
Menkes disease is an X-linked disorder of copper metabolism. An overall copper deficiency reduces the activity of copper-dependent enzymes accounting for the clinical presentation of affected individuals.
Julian Mercer (13076475), L Ambrosini (14575652)   +1 more
core  

CRISPR prime editing as a promising therapeutic avenue for Menkes disease: the next step in correcting ATP7A mutations. [PDF]

Ann Med Surg (Lond)
Shahab SH, Habib F.
europepmc   +1 more source

Retropseudogene insertion generated through retrotransposition in the <i>ATP7A</i> gene results in premature stop codons and a case of Menkes disease. [PDF]

Front Neurol
Kou M, Ren B, Xing M, Chen L, Xu X.
europepmc   +1 more source

Menkes Disease

, 2012
  +4 more sources

Alpha-synuclein null mutation exacerbates the phenotype of a model of Menkes disease in female mice. [PDF]

Front Neurosci
Casey M, Zou D, Reijo Pera RA, Hensley-McBain T, Cabin DE.   +4 more
europepmc   +1 more source