A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The...

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Bibliographic Details
Main Authors: Tahir, Sophia, Leijssen, Lieve GJ, Sherif, Maha, Pereira, Carla, Morais, Anabela, Hussain, Khalid
Format: Online
Language:English
Published: BioMed Central 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397709/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397709/

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