Data di Pubblicazione:
2004
Citazione:
Hereditary hemochromatosis--a new look at an old disease / Pietrangelo, Antonello. - In: THE NEW ENGLAND JOURNAL OF MEDICINE. - ISSN 0028-4793. - STAMPA. - 350:23(2004), pp. 2383-2397. [10.1056/NEJMra031573]
Abstract:
This article has no abstract; the first 100 words appear below.For much of the 20th century, hereditary hemochromatosis was regarded as a clinically and genetically unique entity. The classic findings on presentation — diabetes, bronze pigmentation of the skin, and cirrhosis — were first described in the 19th century, when the term “hemochromatosis” was first used13; by 1935 it had become clear that the disease was hereditary and was caused by excess deposits of iron in the tissue.4 In the 1970s and 1980s, it was recognized as an autosomal recessive disorder linked to the region of the short arm of chromosome 6 encoding HLA-A*3 ,5,6 and in . . .
Tipologia CRIS:
Articolo su rivista
Keywords:
AUTOSOMAL-DOMINANT HEMOCHROMATOSIS, ANTIMICROBIAL PEPTIDE HEPCIDIN, TRANSFERRIN RECEPTOR-2 GENE, IRON OVERLOAD, IDIOPATHIC HEMOCHROMATOSIS, PROTEIN HFE, JUVENILE HEMOCHROMATOSIS, CLINICAL EXPRESSION, C282Y HOMOZYGOTES, NATURAL-HISTORY
Elenco autori:
Pietrangelo, Antonello
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