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A genetic study of Wilson’s disease in the United Kingdom
Coffey, Alison J., Durkie, Miranda, Hague, Stephen, McLay, Kirsten, Emmerson, Jennifer, Lo, Christine, Klaffke, Stefanie, Joyce, Christopher J., Dhawan, Anil, Hadzic, Nedim, Mieli-Vergani, Giorgina, Kirk, Richard, Elizabeth Allen, K., Nicholl, David, Wong, Siew, Griffiths, William, Smithson, Sarah, Giffin, Nicola, Taha, Ali, Connolly, Sally, Gillett, Godfrey T., Tanner, Stuart, Bonham, Jim, Sharrack, Basil, Palotie, Aarno, Rattray, Magnus, Dalton, Ann, Bandmann, Oliver
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Copper Imbalance in Alzheimer’s Disease: Meta-Analysis of Serum, Plasma, and Brain Specimens, and Replication Study Evaluating ATP7B Gene Variants
Squitti, Rosanna, Ventriglia, Mariacarla, Simonelli, Ilaria, Bonvicini, Cristian, Costa, Alfredo, Perini, Giulia, Binetti, Giuliano, Benussi, Luisa, Ghidoni, Roberta, Koch, Giacomo, Borroni, Barbara, Albanese, Alberto, Sensi, Stefano L., Rongioletti, Mauro
Published in Biomolecules (Basel, Switzerland) (29.06.2021)
Published in Biomolecules (Basel, Switzerland) (29.06.2021)
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Pitfalls in the Diagnosis of Wilson Disease
Roy, Debasish, Mukherjee, Angshuman, Chakravarty, Ambar
Published in Current neurology and neuroscience reports (01.12.2025)
Published in Current neurology and neuroscience reports (01.12.2025)
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Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects
Stevens, Kristen E., Price, Julienne E., Marko, Jamie, Kaler, Stephen G.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Basolateral sorting and transcytosis define the Cu+-regulated translocation of ATP7B to the bile canaliculus
Lalioti, Vasiliki, Peiró, Ramón, Pérez-Berlanga, Manuela, Tsuchiya, Yo, Muñoz, Angeles, Villalba, Teresa, Sanchez, Carlos, Sandoval, Ignacio V.
Published in Journal of cell science (01.06.2016)
Published in Journal of cell science (01.06.2016)
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Zinc monotherapy is effective in Wilson’s disease patients with mild liver disease diagnosed in childhood: a retrospective study
Ranucci, Giusy, Di Dato, Fabiola, Spagnuolo, Maria Immacolata, Vajro, Pietro, Iorio, Raffaele
Published in Orphanet journal of rare diseases (25.03.2014)
Published in Orphanet journal of rare diseases (25.03.2014)
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Omeprazole, a Gastric Proton Pump Inhibitor, Inhibits Melanogenesis by Blocking ATP7A Trafficking
Matsui, Mary S., Petris, Michael J., Niki, Yoko, Karaman-Jurukovska, Nevena, Muizzuddin, Neelam, Ichihashi, Masamitsu, Yarosh, Daniel B.
Published in Journal of investigative dermatology (01.03.2015)
Published in Journal of investigative dermatology (01.03.2015)
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Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods
Li, Huamei, Liu, Lifang, Li, Yun, He, Shendi, Liu, Yujie, Li, Jinhong, Tao, Ran, Li, Wei, Shang, Shiqiang
Published in Medicine (Baltimore) (01.07.2018)
Published in Medicine (Baltimore) (01.07.2018)
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Subclinical neurological involvement does not develop if Wilson's disease is treated early
Dubbioso, Raffaele, Ranucci, Giusy, Esposito, Marcello, Di Dato, Fabiola, Topa, Antonietta, Quarantelli, Mario, Matarazzo, Margherita, Santoro, Lucio, Manganelli, Fiore, Iorio, Raffaele
Published in Parkinsonism & related disorders (01.03.2016)
Published in Parkinsonism & related disorders (01.03.2016)
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