| Autor: |
Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1750-1172 |
| DOI: |
10.1186/s13023-021-01988-x |
| Popis: |
Abstract In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG. Our paper “Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)” has shown that further investigation of mannose in PMM2-CDG is worthwhile alongside other treatment options and should not be dismissed off-hand without the willingness to prove or disprove it in controlled prospective clinical trials. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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