P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients

Bibliographic Details
Main Authors: Charles Lourenco, Amadeu Queiroz, Regina Albuquerque, Lilian Sansao, Jacqueline Fonseca
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423002637