Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

• Hoofdauteur: Mercedes Serrano (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2021-10-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark. However, other acute neurological phenomena such as stroke-like episodes (SLE), epilepsy, migraine, and cerebrovascul...