MAN1B1-CDG: novel patients and novel variant

Kasapkara, CS; Olgac, A; Kilic, M; Keldermans, L; Matthijs, G; Jaeken, J

Olgac, A (corresponding author), Univ Hlth Sci, Dr Sami Ulus Matern & Child Hlth Training & Res H, Div Pediat Metab, Babur St, Ankara, Turkey.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021; 34 (9): 1207

Abstract

Objectives: Congenital disorders of glycosylation (CDGs) are a group of genetic disorders due to hypoglycosylation of proteins and lipids. A type I pa......

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