Recognizable phenotypes in CDG
Author:
Funder
National Institute of General Medical Sciences
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-018-0156-5/fulltext.html
Reference68 articles.
1. Al Teneiji A, Bruun TUJ, Sidky S et al (2017) Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. Mol Genet Metab 120:235–242
2. Al-Maawali AA, Miller E, Schulze A et al (2014) Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). Pediatr Radiol 44:222–225
3. Antoun H, Villeneuve N, Gelot A et al (1999) Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1. Pediatr Radiol 29:194–198
4. Artigas J, Cardo E, Pineda M et al (1998) Phosphomannomutase deficiency and normal pubertal development. J Inherit Metab Dis 21:78–79
5. Barone R, Carrozzi M, Parini R et al (2015) A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. J Neurol 262:154–164
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