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The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency
PURPOSE: Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder characterized by a deficiency of the sucrase-isomaltase (SI) enzyme complex within the brush border membrane of the small intestine. Mutations in the SI gene result in abnormal synthesis and/or incorrect transport of...
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| I publikationen: | Qual Life Res |
|---|---|
| Huvudupphovsmän: | , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Springer International Publishing
2021
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8298246/ https://ncbi.nlm.nih.gov/pubmed/33772704 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11136-021-02819-z |
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