المؤلفون: Cadenas, Beatriz, Fita-Torró, Josep, Bermúdez-Cortés, Mar, Hernandez-Rodriguez, Inés, Fuster, José Luis, Llinares, María Esther, Galera, Ana María, Lee Romero, Julia, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez-Fernandez, Mayka

مصطلحات موضوعية: Ferritina, Hiperferritinèmia hereditària, Metabolisme del ferro, Síndrome de cataractes, Malaltia neurodegenerativa, Hiperferritinemia hereditaria, Metabolismo del hierro, Síndrome de cataratas, Enfermedad neurodegenerativa, Ferritin, Hereditary hyperferritinemia, Iron metabolism, Cataract syndrome, Neurodegenerative disease

Time: 61

وصف الملف: application/pdf

Relation: Pharmaceuticals; 12;1; info:eu-repo/grantAgreement/ES/MINECO/SAF2015-70412-R; http://hdl.handle.net/20.500.12328/3071; https://dx.doi.org/10.3390/ph12010017

الاتاحة: https://hdl.handle.net/20.500.12328/3071
https://doi.org/10.3390/ph12010017

المؤلفون: Luscieti, Sara, Tolle, Gabriele, Aranda, Jessica, Benet Campos, Carmen, Risse, Frank, Morán, Érica, Muckenthaler, Martina U., Sanchez-Fernandez, Mayka

مصطلحات موضوعية: Mutacions, Ferro ferritina-L, Síndrome de cataracta d'hiperferritinèmia hereditària, Ferritina sèrica, Metabolisme del ferro, Sistema regulador IRP/IRE, Cataractes bilaterals, Hierro ferritina-L, Síndrome de catarata de hiperferritinemia hereditaria, Ferritina sérica, Metabolismo del hierro, Cataratas bilaterales, Ferro ferritin-L, Hereditary hyperferritinemia cataract syndrome, Serum ferritin, Iron metabolism, IRP / IRE regulatory system, Bilateral cataracts

Time: 57

وصف الملف: application/pdf

Relation: Orphanet Journal of Rare Diseases; 8; info:eu-repo/grantAgreement/ES/MINECO/SAF2012-40106; http://hdl.handle.net/20.500.12328/3079

الاتاحة: https://hdl.handle.net/20.500.12328/3079
https://doi.org/10.1186/1750-1172-8-30

المؤلفون: Celma Nos, Ferran, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begoña, Fuster, José Javier, Bermúdez Cortés, Mar, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez-Fernandez, Mayka

مصطلحات موضوعية: Síndrome de cataracta d'hiperferritinèmia hereditària, HHCS, Ferritina sèrica, Gen FTL, Cataractes, Hiperferritinèmia, IRE, IRP, Síndrome de cataratas por hiperferritinemia hereditaria, Ferritina sérica, Cataratas hiperferritinemia, IRA, Hereditary hyperferritinemia cataract syndrome, Serum ferritin, FTL gene, Cataracts, Hyperferritinemia

Time: 61, 617

وصف الملف: application/pdf

Relation: International Journal of Molecular Sciences; 22;11; Celma Nos, Ferran; Hernández, Gonzalo; Ferrer-Cortès, Xènia [et al.]. Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases. International Journal of Molecular Sciences, 2021, 22(11), 5451. Disponible en: . Fecha de acceso: 9 dic. 2021. DOI:10.3390/ijms22115451; http://hdl.handle.net/20.500.12328/2997; https://dx.doi.org/10.3390/ijms22115451

الاتاحة: https://hdl.handle.net/20.500.12328/2997
https://doi.org/10.3390/ijms22115451

المؤلفون: José Luis Fuster, Ferran Celma Nos, Begoña Navarro-Almenzar, Ines Hernandez-Rodriguez, Xènia Ferrer-Cortès, Gonzalo Hernández, Mar Bermúdez Cortés, Santiago Pérez-Montero, Mayka Sanchez, Cristian Tornador

المصدر: International Journal of Molecular Sciences
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
International Journal of Molecular Sciences, Vol 22, Iss 5451, p 5451 (2021)

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Gen FTL, Ferritina sérica, Case Report, 0302 clinical medicine, Congenital Bilateral Cataracts, hyperferritinemia, Biology (General), Spectroscopy, biology, General Medicine, IRA, Pathophysiology, Computer Science Applications, Chemistry, FTL gene, cataracts, IRE, Hiperferritinèmia, IRP, Ferritina sèrica, Intracellular, medicine.medical_specialty, QH301-705.5, Cataratas hiperferritinemia, Síndrome de cataratas por hiperferritinemia hereditaria, Síndrome de cataracta d'hiperferritinèmia hereditària, HHCS, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Cataracts, Internal medicine, medicine, Physical and Theoretical Chemistry, Molecular Biology, Gene, QD1-999, Messenger RNA, business.industry, Organic Chemistry, serum ferritin, medicine.disease, Ferritin, 030104 developmental biology, Endocrinology, 030221 ophthalmology & optometry, biology.protein, Cataractes, hereditary hyperferritinemia cataract syndrome, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::987d28460d00ea7caf69ed4d420fbc46
http://europepmc.org/articles/PMC8196845

المؤلفون: Frank Risse, Erica Moran, Sara Luscieti, Gabriele Tolle, Carmen Benet Campos, Jessica Aranda, Martina U. Muckenthaler, Mayka Sanchez

المصدر: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 30 (2013)
Orphanet Journal of Rare Diseases
ResearcherID

مصطلحات موضوعية: Male, Untranslated region, Metabolismo del hierro, Síndrome de catarata de hiperferritinemia hereditaria, Ferro ferritina-L, Ferritina sérica, lcsh:Medicine, Electrophoretic Mobility Shift Assay, Plasma protein binding, medicine.disease_cause, Polymerase Chain Reaction, Loss of heterozygosity, Genetics(clinical), Pharmacology (medical), Genetics (clinical), Medicine(all), Metabolisme del ferro, Mutation, biology, Juvenile cataract, Iron-Regulatory Proteins, Autosomal dominant trait, Cataratas bilaterales, General Medicine, Middle Aged, Iron metabolism, Pedigree, Cataractes bilaterals, Female, Sistema regulador IRP/IRE, Ferritina sèrica, Plasmids, Protein Binding, Mutacions, Adult, IRP/IRE regulatory system, Hereditary hyperferritinemia cataract syndrome, Síndrome de cataracta d'hiperferritinèmia hereditària, Hierro ferritina-L, Cataract, Serum ferritin, Young Adult, Ferro ferritin-L, medicine, Humans, Electrophoretic mobility shift assay, Research, IRP / IRE regulatory system, lcsh:R, Bilateral cataracts, Iron Metabolism Disorders, Molecular biology, Ferritin, Apoferritins, biology.protein, Nucleic Acid Conformation, RNA, 5' Untranslated Regions

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418680d0924dff0d7d6c645c82095928
http://www.ojrd.com/content/8/1/30