Literature DB >> 10383191

Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family.

A Balas, M J Aviles, F Garcia-Sanchez, J L Vicario.   

Abstract

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Year:  1999        PMID： 10383191

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  8 in total

Review 1.  Recent advance in molecular iron metabolism: translational disorders of ferritin.

Authors:  Junji Kato; Yoshiro Niitsu
Journal:  Int J Hematol       Date:  2002-10       Impact factor: 2.490

2.  The hereditary hyperferritinemia-cataract syndrome: a family study.

Authors:  Javier Álvarez-Coca-González; María-Isabel Moreno-Carralero; Jorge Martínez-Pérez; Manuel Méndez; Marta García-Ros; María-Josefa Morán-Jiménez
Journal:  Eur J Pediatr       Date:  2010-07-09       Impact factor: 3.183

3.  Mutation analysis of the ferritin L-chain gene in age-related cataract.

Authors:  Nurit Assia; Nitza Goldenberg-Cohen; Gideon Rechavi; Ninette Amariglio; Yoram Cohen
Journal:  Mol Vis       Date:  2010-11-24       Impact factor: 2.367

Review 4.  Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.

Authors:  Gunda Millonig; Martina U Muckenthaler; Sebastian Mueller
Journal:  Hum Genomics       Date:  2010-04       Impact factor: 4.639

5.  A child with hyperferritinemia: case report.

Authors:  Melania Serra; Filomena Longo; Antonella Roetto; Alessandro Sandri; Antonio Piga
Journal:  Ital J Pediatr       Date:  2011-05-12       Impact factor: 2.638

6.  Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.

Authors:  Ferran Celma Nos; Gonzalo Hernández; Xènia Ferrer-Cortès; Ines Hernandez-Rodriguez; Begoña Navarro-Almenzar; José Luis Fuster; Mar Bermúdez Cortés; Santiago Pérez-Montero; Cristian Tornador; Mayka Sanchez
Journal:  Int J Mol Sci       Date:  2021-05-21       Impact factor: 5.923

7.  The hereditary hyperferritinemia-cataract syndrome in 2 italian families.

Authors:  Katia Perruccio; Francesco Arcioni; Carla Cerri; Roberta La Starza; Donatella Romanelli; Ilaria Capolsini; Maurizio Caniglia
Journal:  Case Rep Pediatr       Date:  2013-12-04

Review 8.  Conservation in the Iron Responsive Element Family.

Authors:  Karl Volz
Journal:  Genes (Basel)       Date:  2021-08-30       Impact factor: 4.096
  8 in total

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