Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. (Articolo in rivista)

Type
Label
  • Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1186/1824-7288-39-58 (literal)
Alternative label
  • De Filippo G, Rendina D, Rocco V, Esposito T, Gianfrancesco F, Strazzullo P. (2013)
    Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.
    in The Italian Journal of Pediatrics (Testo stamp.)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • De Filippo G, Rendina D, Rocco V, Esposito T, Gianfrancesco F, Strazzullo P. (literal)
Pagina inizio
  • 58 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 39 (literal)
Rivista
Note
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Servizio di Endocrinologia Pediatrica, AORN \"Gaetano Rummo\", Benevento, Italy Dipartimento di Medicina Clinica e Chirurgia, Università degli Studi Federico II, Naples, Italy Laboratorio di Patologia Clinica, AORN \"Gaetano Rummo\", Benevento, Italy Istituto di Genetica e Biofisica \"Adriano Buzzati-Traverso\" CNR, Naples, Italy Service d'Endocrinologie et Diabétologie Pédiatrique, Hôpitaux Universitaires Paris Sud, Hôpital Bicêtre, Le Kremlin Bicêtre, France (literal)
Titolo
  • Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. (literal)
Abstract
  • Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin and usually results in megaloblastic anemia appearing in childhood. It is responsive to parenteral vitamin B12 therapy.The estimated prevalence (calculated based on Scandinavian data) is less than 6:1,000,000. However, many cases may be misdiagnosed.When there is reasonable evidence to suspect that a patient suffers from IGS, a new and straightforward approach to diagnosis is mutational analysis of the appropriate genes. We report for the first time the case of a girl of Italian ancestry with IGS genetically confirmed by the detection of a homozygous missense mutation in the AMN gene (c.208-2 A > G). (literal)
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