Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation-Reference-Cited by-同舟云学术

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Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation

Published:2017-01-01 Issue:2 Volume:30 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Potter Kathryn,Wu John,Lauzon Julie,Ho Josephine

Abstract

AbstractThree siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2016-0322/pdf

Reference46 articles.

1. Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update;J Pediatr,2009

2. Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings;Pediatr Diabetes,2013

3. Five years followup of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia;Indian Pediatr,2001

4. Thiamine transporter mutation: an example of monogenic diabetes mellitus;Eur J Endocrinol,2006

5. Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update;J Pediatr,2009

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1. Precision treatment of beta-cell monogenic diabetes: a systematic review;Communications Medicine;2024-07-18

2. Thiamine-responsive megaloblastic anaemia;The National Medical Journal of India;2024-05-16

3. Systematic Review of Treatment of Beta-Cell Monogenic Diabetes;2023-05-12

4. The application of precision medicine in monogenic diabetes;Expert Review of Endocrinology & Metabolism;2022-03-01

5. Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome;American Journal of Medical Genetics Part A;2021-11-25

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