Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Cechova, A; Honzik, T; Edmondson, AC; Ficicioglu, C; Serrano, M; Barone, R; De Lonlay, P; Schiff, M; Witters, P; Lam, C; Patterson, M; Janssen, MCH; Correia, J; Quelhas, D; Sykut-Cegielska, J; Plotkin, H; Morava, E; Sarafoglou, K

Morava, E (corresponding author), Mayo Clin, Dept Lab Med & Pathol, Dept Clin Genom, Rochester, MN 55905 USA.; Plotkin, H (corresponding author), Glycomine Inc, San Francisco, CA 94107 USA.; Plotkin, H (corresponding author), Univ Nebraska Med Ctr, Dept Pediat, Omaha, NE 68198 USA.

MOLECULAR GENETICS AND METABOLISM, 2021; 133 (4): 397

Abstract

PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnorma......

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