Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
2.50
- Hdl Handle:
- http://hdl.handle.net/11287/620637
- Title:
- Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
- Authors:
- Abstract:
- Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B1) in a cohort of individuals with TRMA-related diabetes.
- Citation:
- Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. 2018 Diabetologia
- Publisher:
- Journal:
- Issue Date:
- 15-Feb-2018
- URI:
- http://hdl.handle.net/11287/620637
- DOI:
- 10.1007/s00125-018-4554-x
- PubMed ID:
- 29450569
- Additional Links:
- https://link.springer.com/article/10.1007%2Fs00125-018-4554-x
- Type:
- Journal Article
- Language:
- en
- ISSN:
- 1432-0428
- Appears in Collections:
- Diabetes/Endocrine Services; Molecular Genetics; 2018 RD&E publications
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Habeb, A.M. | en |
dc.contributor.author | Flanagan, S. E. | en |
dc.contributor.author | Zulali, M. A. | en |
dc.contributor.author | Abdullah, M. A. | en |
dc.contributor.author | Pomahačová, R. | en |
dc.contributor.author | Boyadzhiev, V. | en |
dc.contributor.author | Colindres, L. E. | en |
dc.contributor.author | Godoy, G. V. | en |
dc.contributor.author | Vasanthi, T. | en |
dc.contributor.author | Al Saif, R. | en |
dc.contributor.author | Setoodeh, A. | en |
dc.contributor.author | Haghighi, A. | en |
dc.contributor.author | Haghighi, A. | en |
dc.contributor.author | Shaalan, Y. | en |
dc.contributor.author | Hattersley, Andrew T. | en |
dc.contributor.author | Ellard, Sian | en |
dc.contributor.author | De Franco, E. | en |
dc.date.accessioned | 2018-03-19T10:17:33Z | - |
dc.date.available | 2018-03-19T10:17:33Z | - |
dc.date.issued | 2018-02-15 | - |
dc.identifier.citation | Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. 2018 Diabetologia | en |
dc.identifier.issn | 1432-0428 | - |
dc.identifier.pmid | 29450569 | - |
dc.identifier.doi | 10.1007/s00125-018-4554-x | - |
dc.identifier.uri | http://hdl.handle.net/11287/620637 | - |
dc.description.abstract | Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B1) in a cohort of individuals with TRMA-related diabetes. | en |
dc.language.iso | en | en |
dc.publisher | Springer | en |
dc.relation.url | https://link.springer.com/article/10.1007%2Fs00125-018-4554-x | en |
dc.rights | Archived with thanks to Diabetologia | en |
dc.subject | Wessex Classification Subject Headings::Oncology. Pathology.::Genetics | en |
dc.subject | Wessex Classification Subject Headings::Endocrinology::Diabetes | en |
dc.title | Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. | en |
dc.type | Journal Article | en |
dc.identifier.journal | Diabetologia | en |
dc.type.version | In press (epub ahead of print) | en |
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