ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies - Concepedia

Concepedia

Publication | Open Access

ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

DOI Full Paper Access

46

Citations

8

References

2016

Year

Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Séta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt,

Journal of Inherited Metabolic Disease

Abstract

ALG6-CDG has been now described in 89 patients, making it the second most common type of CDG. It has a recognizable phenotype and a primary neurologic presentation.

References

	Year	Citations

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