Background Public and patient involvement in the design of people-centred care and
research is vital for communities whose needs are underserved, as are people with rare …

Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for
which effective therapies are almost nonexistent. To better understand the reasons behind …

Background Congenital disorders of glycosylation (CDG) are a large family of rare genetic
diseases for which therapies are virtually nonexistent. However, CDG therapeutic research …

Abstract Background Congenital Disorders of Glycosylation (CDG) are a complex family of
rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full …

Background Congenital disorders of glycosylation are a group of rare metabolic, genetic
diseases that cause severe cognitive and physical impairments. Owing to the rarity of this …

At least 50% of chronic disease patients don't follow their care plans, leading to lower health
outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to …

We have identified 200 congenital disorders of glycosylation (CDG) caused by 189 different
gene defects and have proposed a classification system for CDG based on the mode of …

Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great
phenotypic diversity ranging from mono-to multi-organ/multisystem involvement. Liver …

Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of
rare metabolic diseases. With a clinical history that dates back over 40 years, it was the …

Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous
disorders characterized by defects in the synthesis of glycans and their attachment to …