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Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
Human Mutation, 11/02/09

Haeuptle MA et al. – The present analysis shows that most mutations lead to substitutions of strongly conserved amino acid residues across eukaryotes. The comparison between the different forms of CDG affecting dolichol–linked oligosaccharide biosynthesis shows that the severity of the disease does not relate to the position of the mutated gene along this biosynthetic pathway.

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Clinical management of motility disorders in children
Seminars in Pediatric Surgery, 10/01/09 Relevance Score: 68%

Open Thoracic Aortic Repair for Dysphagia in Patients with Kommerell's Diverticulum and Right-Sided Aortic Arch with Aberrant Left Subclavian Artery
Journal of Cardiac Surgery, 10/22/09 Relevance Score: 65%

Congenital Disorders of Ribosome Biogenesis
Biology of Blood and Marrow Transplantation, 10/15/09 Relevance Score: 65%

Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency
Journal of Clinical Endocrinology and Metabolism, 10/12/09 Relevance Score: 65%

Depression and anxiety in adult congenital heart disease: Predictors and prevalence
International Journal of Cardiology, 10/07/09 Relevance Score: 65%