Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

ConclusionsThis report highlights the view that congenital disorders of glycosylation type 1a should be excluded when faced with congenital heart defect with cerebellar atrophy or neurodevelopmental delay, especially when the situation of congenital heart defect becomes more and more severe.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research