Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a
very heterogeneous condition and represents the most common cause of severe and …

Advances in research have boosted therapy development for congenital disorders of
glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid …

Abnormal polyol metabolism is predominantly associated with diabetes, where excess
glucose is converted to sorbitol by aldose reductase (AR). Recently, abnormal polyol …

Mutations in glycosylation pathways, such as N-linked glycosylation, O-linked glycosylation,
and GPI anchor synthesis, lead to Congenital Disorders of Glycosylation (CDG). CDG …

Background and aim Congenital disorders of glycosylation (CDG) are a large
heterogeneous group of about 170 rare inherited metabolic disorders due to defective …

The development of the central nervous system requires a series of morphogenetic events
that shape brain and spinal cord structures. Several brain regions and neural circuits are …

Abstract Background Congenital Disorders of Glycosylation (CDG) are a large group of
inborn errors of metabolism with more than 140 different CDG types reported to date (1). The …

Inherited metabolic disorders (IMD) are a group of hereditary diseases wherein the
impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease …

Background: Recessive pathogenic variants in LAMA2 resulting in complete or partial loss of
laminin α2 protein cause congenital muscular dystrophy (LAMA2 CMD). The prevalence of …

磷酸甘露糖变位酶2 缺乏症是最常见的N-糖基化障碍， 又称磷酸甘露糖变位酶2
相关性先天性糖基化障碍（ phosphomannomutase 2-congenital disorder of glycosylation …