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Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.
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Document type | Article de périodique (Journal article) – Article de recherche |
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Access type | Accès restreint |
Publication date | 2005 |
Journal information | "European Journal of Gastroenterology and Hepatology" - Vol. 17, no. 11, p. 1247-1253 (2005) |
Peer reviewed | yes |
Publisher | Lippincott Williams & Wilkins (Philadelphia) |
issn | 0954-691X |
e-issn | 1473-5687 |
Publication status | Publié |
Affiliations |
UCL
- MD/MINT - Département de médecine interne UCL - (SLuc) Service d'hépato-gastro-entérologie |
MESH Subject | Adolescent ; Adult ; Apoferritins ; Cataract - genetics ; Female ; Ferritins - biosynthesis - blood - genetics ; Humans ; Iron - metabolism ; Iron Metabolism Disorders - diagnosis - genetics ; Iron-Regulatory Proteins - genetics ; Male ; Middle Aged ; Phenotype ; Point Mutation ; Syndrome |
Keywords | Isolated hyperferritineemia ; Hyperferritinaemia ; Cataract ; HHCS ; Hereditary ; Hyperferritinea-cataract syndrome |
Links |
Bibliographic reference | Ferrante, Marc ; Geubel, André ; Fevery, Johan ; Marogy, Ghada ; Horsmans, Yves ; et. al. Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.. In: European Journal of Gastroenterology and Hepatology, Vol. 17, no. 11, p. 1247-1253 (2005) |
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Permanent URL | http://hdl.handle.net/2078.1/25647 |