Severe ichthyosis in MPDU1-CDG

Thiel, C; Wortmann, S; Riedhammer, K; Alhaddad, B; Mayatepek, E; Prokisch, H; Distelmaier, F

Distelmaier, F (reprint author), Heinrich Heine Univ, Univ Childrens Hosp Duesseldorf, Dept Gen Pediat Neonatol & Pediat Cardiol, Med Fac, Moorenstr 5, D-40225 Dusseldorf, Germany.

JOURNAL OF INHERITED METABOLIC DISEASE, 2018; 41 (6): 1293

Abstract

Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin a......

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