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Articles, 2 records found
Articles 2 records found  
1.
14 p, 1.2 MB Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis / Vila Cuenca, Marc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Marchi, Giacomo (Azienda Ospedaliera Universitaria Integrata di Verona) ; Barqué, Anna (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Esteban-Jurado, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Marchetto, Alessandro (University of Verona) ; Giorgetti, Alejandro (Department of Biotechnology, University of Verona) ; Chelban, Viorica (National Hospital for Neurology and Neurosurgery, London) ; Houlden, Henry (National Hospital for Neurology and Neurosurgery, London) ; Wood, Nicholas W.. (National Hospital for Neurology and Neurosurgery, London) ; Piubelli, Chiara (Centre for Tropical Diseases, Ospedale Sacro Cuore - Don Calabria) ; Dorigatti Borges, Marina (University of Campinas-UNICAMP) ; Martins de Albuquerque, Dulcinéia (University of Campinas-UNICAMP) ; Yotsumoto Fertrin, Kleber (University of Campinas-UNICAMP) ; Jové-Buxeda, Ester (Universitat Autònoma de Barcelona. Departament de Medicina) ; Sánchez-Delgado, Jordi (Universitat Autònoma de Barcelona. Departament de Medicina) ; Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Burnyte, Birute (Vilnius University) ; Utkus, Algirdas (Vilnius University) ; Busti, Fabiana (Azienda Ospedaliera Universitaria Integrata di Verona) ; Kaubrys, Gintaras (Vilnius University) ; Suku, Eda (University of Verona) ; Kowalczyk, Kamil (Medical University of Gdańsk) ; Karaszewski, Bartosz (Medical University of Gdańsk) ; Porter, John B. (University College London NHS Foundation Trust) ; Pollard, Sally (Consultant Paediatrician, Bradford Royal Infirmary) ; Eleftheriou, Perla (University College London NHS Foundation Trust) ; Bignell, Patricia (Oxford University Hospitals NHS Foundation Trust) ; Girelli, Domenico (Azienda Ospedaliera Universitaria Integrata di Verona) ; Sánchez-Fernández, Mayka (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. [...]
2020 - 10.3390/ijms21072374
International journal of molecular sciences, Vol. 21 (march 2020)  
Detailed record - Creative Commons
2.
15 p, 1.8 MB L-ferritin : One gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia-report of new cases / Cadenas, Beatriz (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Fita-Torró, Josep (BloodGenetics SL. Esplugues de Llobregat) ; Bermúdez-Cortés, Mar (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Hernandez-Rodriguez, Inés (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Fuster, José Luis (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Llinares, María Esther (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Galera, Ana (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Romero, Julia Lee (Biomedical Engineering Department. University of Texas at Austin) ; Pérez-Montero, Santiago (BloodGenetics SL. Esplugues de Llobregat) ; Tornador, Cristian (BloodGenetics SL. Esplugues de Llobregat) ; Sánchez-Fernández, Mayka (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five diseases: (1) hereditary hyperferritinemia with cataract syndrome (HHCS), (2) neuroferritinopathy, a subtype of neurodegeneration with brain iron accumulation (NBIA), (3) benign hyperferritinemia, (4) L-ferritin deficiency with autosomal dominant inheritance, and (5) L-ferritin deficiency with autosomal recessive inheritance. [...]
2019 - 10.3390/ph12010017
Pharmaceuticals, Vol. 12 Núm. 1 (2019) , p. 17  
Detailed record - Creative Commons

See also: similar author names
1 Sánchez-Fernández, M.
1 Sánchez-Fernández, María Dolores
1 Sánchez-Fernández, María Dolores, 0000-0001-9065-1699
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