The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families
Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H...
Saved in:
Main Authors: | Katia Perruccio, Francesco Arcioni, Carla Cerri, Roberta La Starza, Donatella Romanelli, Ilaria Capolsini, Maurizio Caniglia |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2013-01-01
|
Series: | Case Reports in Pediatrics |
Online Access: | http://dx.doi.org/10.1155/2013/806034 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee
by: Heidi A. Worth, et al.
Published: (2020-01-01) -
A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome
by: Karen Wong, et al.
Published: (2005-01-01) -
Hyperferritinemia at the patient with chronic hepatitis C
by: Ye. N. German, et al.
Published: (2009-02-01) -
Patient with Jaundice, Dyspnea and Hyperferritinemia after COVID-19
by: V. R. Grechishnikova, et al.
Published: (2022-09-01) -
Liver Failure with Marked Hyperferritinemia: ‘Ironing Out’ the Diagnosis
by: Susan E Natsheh, et al.
Published: (2001-01-01)