Publications:

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

International Journal Of Molecular Sciences

Vila Cuenca, Marc M; Marchi, Giacomo G; Barqué, Anna A; Esteban-Jurado, Clara C; Marchetto, Alessandro A; Giorgetti, Alejandro A; Chelban, Viorica V; Houlden, Henry H; Wood, Nicholas W NW; Piubelli, Chiara C; Dorigatti Borges, Marina M; Martins de Albuquerque, Dulcinéia D; Yotsumoto Fertrin, Kleber K; Jové-Buxeda, Ester E; Sanchez-Delgado, Jordi J; Baena-Díez, Neus N; Burnyte, Birute B; Utkus, Algirdas A; Busti, Fabiana F; Kaubrys, Gintaras G; Suku, Eda E; Kowalczyk, Kamil K; Karaszewski, Bartosz B; Porter, John B JB; Pollard, Sally S; Eleftheriou, Perla P; Bignell, Patricia P; Girelli, Domenico D; Sanchez, Mayka M

Publication Date: 2020-03-30

Variant appearance in text: CP: Cys338Ser

PubMed Link: 32235485

Variant Present in the following documents:

• Main text

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Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis.

Frontiers In Neuroscience

Marchi, Giacomo G; Busti, Fabiana F; Lira Zidanes, Acaynne A; Castagna, Annalisa A; Girelli, Domenico D

Publication Date: 2019

Variant appearance in text: CP: Cys338Ser

PubMed Link: 31024241

Variant Present in the following documents:

• Main text
• fnins-13-00325.pdf

View BVdb publication page