Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)

We report successful heart transplantation in a phosphoglucomutase 1 deficient (PGM1‐CDG) patient. She presented with facial dysmorphism, bifid uvula and structural heart defects. Newborn screening was positive for classic galactosemia. The patient was on a galactose‐free diet for 8 months. Eventual...

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Detalles Bibliográficos
Autores principales: Altassan, Ruqaiah, Albert‐Brotons, Dimpna C., Alowain, Mohammad, Al‐Halees, Zohair, Jaeken, Jaak, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981415/
https://www.ncbi.nlm.nih.gov/pubmed/36873091
http://dx.doi.org/10.1002/jmd2.12350

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981415/
https://www.ncbi.nlm.nih.gov/pubmed/36873091
http://dx.doi.org/10.1002/jmd2.12350

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