Concepedia

Publication | Closed Access

Neurological Presentation in Pediatric Patients with Congenital Disorders of Glycosylation Type Ia

DOI

46

Citations

0

References

2003

Year

E. Miossec-Chauvet, Yann Mikaeloff, D. Héron, V. Merzoug, Valérie Cormier‐Daire, Pascale de Lonlay, Gert Matthijs, C. Van Hulle, G Ponsot, Nathalie Séta
Neuropediatrics

Abstract

Our findings confirm the importance of a precise and complete description of the neurological and neuroradiological phenotype delineating the phenotype of CDG-Ia to increase the likelihood of diagnosing the disease.