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Congenital disorders of glycosylation with neonatal presentation
Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an a...
Tallennettuna:
| Päätekijät: | , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Publishing Group
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3992553/ https://ncbi.nlm.nih.gov/pubmed/24739649 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-010037 |
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