TY - JOUR AU - Starosta, Rodrigo Tzovenos AU - Boyer, Suzanne AU - Tahata, Shawn AU - Raymond, Kimiyo AU - Lee, Hee Eun AU - Wolfe, Lynne A. AU - Lam, Christina AU - Edmondson, Andrew C. AU - Schwartz, Ida Vanessa Doederlein AU - Morava, Eva PY - 2021 DA - 2021/01/07 TI - Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up JO - Orphanet Journal of Rare Diseases SP - 20 VL - 16 IS - 1 AB - The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder, but also from patient to patient. In this study, we sought to identify common patterns of liver injury among patients with a broad spectrum of CDG, and to provide recommendations for follow-up in clinical practice. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-020-01630-2 DO - 10.1186/s13023-020-01630-2 ID - Starosta2021 ER -