Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx (Articolo in rivista)

Type
Label
  • Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx (Articolo in rivista) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s10545-008-1004-9 (literal)
Alternative label
  • P.L.Calvo, S.Pagliardini, M.Baldi, A.Pucci, L.Sturiale, D.Garozzo, T.Vinciguerra, C.Barbera, J.Jaeken (2008)
    Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx
    in Journal of inherited metabolic disease; SPRINGER, DORDRECHT (Paesi Bassi)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • P.L.Calvo, S.Pagliardini, M.Baldi, A.Pucci, L.Sturiale, D.Garozzo, T.Vinciguerra, C.Barbera, J.Jaeken (literal)
Pagina inizio
  • 437 (literal)
Pagina fine
  • 440 (literal)
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  • 31 (literal)
Rivista
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  • 4 (literal)
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  • S2 (literal)
Note
  • ISI Web of Science (WOS) (literal)
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  • Univ Turin, Regina Margherita Hosp, Dept Pediat Gastroenterol,Turin, Italy, CNR, Ist Chim & Tecnol Polimeri, Catania, Italy, Univ Hosp Gasthuisberg, Dept Pediat, Ctr Metab Dis, Louvain, Belgium (literal)
Titolo
  • Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx (literal)
Abstract
  • A 32 year-old asymptomatic male came to our attention with a 21-year history, documented elsewhere, of puzzling increases in his serum transaminase level. At first, very low serum ceruloplasmin level suggested Wilson disease. Two liver biopsies showed mild portal inflammation, steatosis and mild fibrosis. Further investigation revealed low levels of the glycoproteins AT III and clotting factor XI, leading to a diagnosis of congenital disorder of glycosylation (CDG) type II. Further studies as to the cause of this 'apparently new' CDG, are ongoing. On the basis of our data and a literature review, we suggest that subjects with asymptomatic hypertransaminasaemia be screened for CDG. (literal)
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