Nature

Congenital Disorders of Glycosylation

Congenital Disorders of Glycosylation (CDGs) comprise a heterogeneous group of inherited metabolic conditions resulting from defects in the glycosylation machinery. These disorders disrupt the ...

What are the most common congenital heart diseases in children and how early can they be detected?

Congenital heart diseases (CHDs), the most common birth defects, affect 8 to 12 per 1,000 live births globally. These structural heart problems, ranging from minor to critical, are often detected ...
NBC 10 Philadelphia

‘Hi my name is Jack': Montco school celebrates student with congenital disorders of glycosylation

Bridle Path Elementary school students and teachers geared up in green for a celebration of one special kid. On Thursday the Montgomery County elementary school took the time to teach students about ...
News-Medical.Net on MSN

Discovery of CPD gene mutations sheds light on rare congenital hearing loss

Mutations in a gene known as CPD play a crucial role in a rare form of congenital hearing loss, an international team of ...