PubMed (Bookshelf cited) for id: 83338

Year	Number of Results
1982	1
1984	2
1985	1
1989	1
1992	1
1997	1
1998	1
1999	2
2000	4
2001	3
2002	2
2003	3
2004	1
2006	2
2009	6
2010	1
2011	1
2012	3
2013	2
2014	2
2016	1
2017	1
2018	1
2019	2
2020	1
2021	3
2022	1
2024	0

1

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.

Wu S, Yuan Z, Sun Z, Yao F, Sui R. Wu S, et al. Am J Med Genet A. 2022 Mar;188(3):948-952. doi: 10.1002/ajmg.a.62582. Epub 2021 Nov 25. Am J Med Genet A. 2022. PMID: 34821467

2

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.

Kang P, Zhang W, Wen J, Zhang J, Li F, Sun W. Kang P, et al. Front Pediatr. 2021 Mar 19;9:630329. doi: 10.3389/fped.2021.630329. eCollection 2021. Front Pediatr. 2021. PMID: 33816400 Free PMC article.

3

Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.

Zhang S, Qiao Y, Wang Z, Zhuang J, Sun Y, Shang X, Li G. Zhang S, et al. Clin Chim Acta. 2021 May;516:157-168. doi: 10.1016/j.cca.2021.01.025. Epub 2021 Feb 9. Clin Chim Acta. 2021. PMID: 33571483 Free article.

4

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

5

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B. Marcé-Grau A, et al. J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24. J Inherit Metab Dis. 2019. PMID: 31095747 Review.

6

Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes.

Jungtrakoon P, Shirakawa J, Buranasupkajorn P, Gupta MK, De Jesus DF, Pezzolesi MG, Panya A, Hastings T, Chanprasert C, Mendonca C, Kulkarni RN, Doria A. Jungtrakoon P, et al. Diabetes. 2019 May;68(5):1084-1093. doi: 10.2337/db17-0821. Epub 2019 Mar 4. Diabetes. 2019. PMID: 30833467 Free PMC article.

7

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, Setoodeh A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium; Hattersley AT, Ellard S, De Franco E. Habeb AM, et al. Diabetologia. 2018 May;61(5):1027-1036. doi: 10.1007/s00125-018-4554-x. Epub 2018 Feb 15. Diabetologia. 2018. PMID: 29450569 Free PMC article.

8

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.

Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963

9

Treatment of genetic defects of thiamine transport and metabolism.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Expert Rev Neurother. 2016 Jul;16(7):755-63. doi: 10.1080/14737175.2016.1187562. Epub 2016 May 23. Expert Rev Neurother. 2016. PMID: 27191787 Review.

10

Cochlear implant and thiamine-responsive megaloblastic anemia syndrome.

Hagr AA. Hagr AA. Ann Saudi Med. 2014 Jan-Feb;34(1):78-80. doi: 10.5144/0256-4947.2014.78. Ann Saudi Med. 2014. PMID: 24658560 Free PMC article.

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