Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series

Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) (OMIM: 614921) is a rare autosomal recessive inherited metabolic disease caused by the deficiency of the PGM1 enzyme. Like other CDGs, PGM1-CDG has a multisystemic presentation. The most common clinical findings include liver invol...

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Detalles Bibliográficos
Autores principales: Radenkovic, Silvia, Johnsen, Christin, Schulze, Andreas, Lail, Gurnoor, Guilder, Laura, Schwartz, Kaitlin, Schultz, Matthew, Mercimek-Andrews, Saadet, Boyer, Suzanne, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
New therapies in inborn errors of metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032428/
https://www.ncbi.nlm.nih.gov/pubmed/37181075
http://dx.doi.org/10.1177/26330040221150269

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