Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx

Autor: M Mampunza, Domenico Garozzo, Jaak Jaeken, N C Nsibu, Hubert Carchon, M P Tshibassu, M N L Mashako, L Sturiale

Publikováno v: European journal of paediatric neurology 12 (2008): 257–261.
info:cnr-pdr/source/autori:N.C.Nsibu, J.Jaeken, H.Carchon, M.Mampunza, L.Sturiale, D.Garozzo, M.N.L.Mashako, M.P.Tshibassu/titolo:Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx/doi:/rivista:European journal of paediatric neurology/anno:2008/pagina_da:257/pagina_a:261/intervallo_pagine:257–261/volume:12

We describe an infant girl with psychomotor retardation, growth retardation, mild facial dysmorphy, evidence of liver involvement and a type 2 pattern of serum sialotransferrins. Serum transferrin glycan analysis with MALDI-TOF showed an extremely al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::327608e8fb46a787dec32cb4a6b2617c
https://doi.org/10.1016/j.ejpn.2007.07.012