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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:
Habeb, A.M.; Flanagan, S. E.; Zulali, M. A.; Abdullah, M. A.; Pomahačová, R.; Boyadzhiev, V.; Colindres, L. E.; Godoy, G. V.; Vasanthi, T.; Al Saif, R.; Setoodeh, A.; Haghighi, A.; Haghighi, A.; Shaalan, Y.; Hattersley, Andrew T.; Ellard, Sian ( 0000-0002-7620-5526 ) ; De Franco, E.
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:
Springer
Journal:
Diabetologia
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 FieldValue Language
dc.contributor.authorHabeb, A.M.en
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorZulali, M. A.en
dc.contributor.authorAbdullah, M. A.en
dc.contributor.authorPomahačová, R.en
dc.contributor.authorBoyadzhiev, V.en
dc.contributor.authorColindres, L. E.en
dc.contributor.authorGodoy, G. V.en
dc.contributor.authorVasanthi, T.en
dc.contributor.authorAl Saif, R.en
dc.contributor.authorSetoodeh, A.en
dc.contributor.authorHaghighi, A.en
dc.contributor.authorHaghighi, A.en
dc.contributor.authorShaalan, Y.en
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorDe Franco, E.en
dc.date.accessioned2018-03-19T10:17:33Z-
dc.date.available2018-03-19T10:17:33Z-
dc.date.issued2018-02-15-
dc.identifier.citationPharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. 2018 Diabetologiaen
dc.identifier.issn1432-0428-
dc.identifier.pmid29450569-
dc.identifier.doi10.1007/s00125-018-4554-x-
dc.identifier.urihttp://hdl.handle.net/11287/620637-
dc.description.abstractDiabetes 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.isoenen
dc.publisherSpringeren
dc.relation.urlhttps://link.springer.com/article/10.1007%2Fs00125-018-4554-xen
dc.rightsArchived with thanks to Diabetologiaen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titlePharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.en
dc.typeJournal Articleen
dc.identifier.journalDiabetologiaen
dc.type.versionIn press (epub ahead of print)en

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