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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| Autori principali: | , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
SAGE Publishing
2023-01-01
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| Serie: | Therapeutic Advances in Rare Disease |
| Accesso online: | https://doi.org/10.1177/26330040221150269 |
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