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4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic ana...

4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic ana...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3176230460

4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress

About this item

Full title

4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress

Publisher

Wydawnictwo Via Medica

Journal title

Endokrynologia polska, 2025-01, Vol.76 (1), p.108-115

Language

English

Formats

Publication information

Publisher

Wydawnictwo Via Medica

More information

Scope and Contents

Contents

INTRODUCTION: Thiamine-responsive megaloblastic anaemia syndrome (TRMA) is a rare genetic disease caused by mutations in the SLC19A2 gene that encodes thiamine transporter 1 (THTR-1). The common manifestations are diabetes, anaemia, and deafness. The pathogenicmechanism has not yet been clarified. MATERIAL AND METHODS: Rat pancreatic islet tumour c...

Alternative Titles

Full title

4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_3176230460

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3176230460

Other Identifiers

ISSN

0423-104X

E-ISSN

2299-8306

DOI

10.5603/ep.101404

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