Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Síndrome de cataracta d'hiperferritinèmia hereditària"'
Autor:
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
Publikováno v:
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)
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)
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::987d28460d00ea7caf69ed4d420fbc46
http://europepmc.org/articles/PMC8196845
http://europepmc.org/articles/PMC8196845
Autor:
Frank Risse, Erica Moran, Sara Luscieti, Gabriele Tolle, Carmen Benet Campos, Jessica Aranda, Martina U. Muckenthaler, Mayka Sanchez
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 30 (2013)
Orphanet Journal of Rare Diseases
ResearcherID
Orphanet Journal of Rare Diseases
ResearcherID
Background Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease is caused by mutations in the Iron-Responsive E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418680d0924dff0d7d6c645c82095928
http://www.ojrd.com/content/8/1/30
http://www.ojrd.com/content/8/1/30