Isolated hyperferritinemia in a healthy male infant: Hereditary hyperferritinemia-cataract syndrome;Hiperferritinemia aislada en un lactante sano: Síndrome hereditario de hiperferritinemia y cataratas

Anales Espanoles de Pediatria

Volumn 52, Issue 3, 2000, Pages 267-270

  Cervera Bravo, A ^a   Sebastian Planas M ^a   Alarabe Alarabe, A ^a   Diez Saenz A ^a   Aviles Egea M J ^a   Balas Peez A ^a  

^a HOSPITAL DE MÓSTOLES   (Spain)

Author keywords

Congenital cataract; Hyperferritinemia; Iron metabolism

Indexed keywords

FERRITIN; IRON;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL CATARACT; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DRUG RESPONSE; GENE MUTATION; HUMAN; HYPERFERRITINEMIA; INFANT; IRON THERAPY; MALE; PATHOGENESIS; POINT MUTATION;

CATARACT; FERRITINS; HUMANS; INFANT, NEWBORN; IRON METABOLISM DISORDERS; MALE; PEDIGREE; SYNDROME;

EID: 0034448308     PISSN: 03024342     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract
2. Bilateral cataract and high serum ferritin: A new dominant genetic disorder?
3. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
4. Mutation in the iron responsive element of L ferritin mRNA in a family with dominant hyperferritinemia and cataract
5. A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome
6. Hereditary hyperferritinemia-cataract syndrome: Relation between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA
7. Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron-responsive element of ferritin L-subunit gene
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9. Hereditary hyperferritinemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element
10. Description of a new mutation in the L-ferritin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family
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