PubMed for id: 343337

Year	Number of Results
1981	1
1985	1
1988	1
1989	1
1992	2
1995	1
1997	2
1998	2
2000	2
2001	2
2002	1
2003	1
2005	1
2007	1
2008	2
2009	1
2011	1
2012	1
2013	5
2014	2
2015	1
2017	1
2018	2
2019	2
2020	1
2021	2
2022	1
2023	0

1

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Billington CJ Jr, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K. Billington CJ Jr, et al. Am J Med Genet A. 2022 Sep;188(9):2738-2749. doi: 10.1002/ajmg.a.62893. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35799415 Free PMC article.

2

Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.

Medina MF, Castro G, Falcon F, Cabello JF, Faundes V, Ruffato D, Salazar MF, Arias C, Peñaloza F, De La Parra A, Cornejo V. Medina MF, et al. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):373-380. doi: 10.1002/ajmg.c.31933. Epub 2021 Jul 21. Am J Med Genet C Semin Med Genet. 2021. PMID: 34288399

3

Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.

Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F. Jiang HH, et al. J Pediatr Endocrinol Metab. 2021 Jun 30;34(9):1147-1156. doi: 10.1515/jpem-2020-0746. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34187135 Review.

4

Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.

Sun WH, Wu BB, Wang YQ, Wu MY, Dong XR, Zhang YP, Lu W, Zhang P, Yang B, Zhang M, Wu HJ, Zhou WH. Sun WH, et al. World J Pediatr. 2020 Aug;16(4):401-410. doi: 10.1007/s12519-020-00349-1. Epub 2020 Mar 19. World J Pediatr. 2020. PMID: 32193832

5

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.

Li Y, Zhang H, Yan B, Ma Y, Yang X, Guan J, Lv Y, Gao M, Ma J, Gai Z, Liu Y. Li Y, et al. Stem Cell Res. 2019 Oct;40:101579. doi: 10.1016/j.scr.2019.101579. Epub 2019 Sep 14. Stem Cell Res. 2019. PMID: 31610500 Free article.

6

Crystal structure and catalytic activity of the PPM1K N94K mutant.

Dolatabad MR, Guo LL, Xiao P, Zhu Z, He QT, Yang DX, Qu CX, Guo SC, Fu XL, Li RR, Ge L, Hu KJ, Liu HD, Shen YM, Yu X, Sun JP, Zhang PJ. Dolatabad MR, et al. J Neurochem. 2019 Feb;148(4):550-560. doi: 10.1111/jnc.14631. Epub 2019 Jan 3. J Neurochem. 2019. PMID: 30451284 Free article.

7

Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.

Zeynalzadeh M, Tafazoli A, Aarabi A, Moghaddassian M, Ashrafzadeh F, Houshmand M, Taghehchian N, Abbaszadegan MR. Zeynalzadeh M, et al. J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):205-212. doi: 10.1515/jpem-2017-0305. J Pediatr Endocrinol Metab. 2018. PMID: 29306928

8

Impaired adiponectin signaling contributes to disturbed catabolism of branched-chain amino acids in diabetic mice.

Lian K, Du C, Liu Y, Zhu D, Yan W, Zhang H, Hong Z, Liu P, Zhang L, Pei H, Zhang J, Gao C, Xin C, Cheng H, Xiong L, Tao L. Lian K, et al. Diabetes. 2015 Jan;64(1):49-59. doi: 10.2337/db14-0312. Epub 2014 Jul 28. Diabetes. 2015. PMID: 25071024

9

Benzothiophene carboxylate derivatives as novel allosteric inhibitors of branched-chain α-ketoacid dehydrogenase kinase.

Tso SC, Gui WJ, Wu CY, Chuang JL, Qi X, Skvora KJ, Dork K, Wallace AL, Morlock LK, Lee BH, Hutson SM, Strom SC, Williams NS, Tambar UK, Wynn RM, Chuang DT. Tso SC, et al. J Biol Chem. 2014 Jul 25;289(30):20583-93. doi: 10.1074/jbc.M114.569251. J Biol Chem. 2014. PMID: 24895126 Free PMC article.

10

Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.

Zimmerman HA, Olson KC, Chen G, Lynch CJ. Zimmerman HA, et al. Mol Genet Metab. 2013 Aug;109(4):345-53. doi: 10.1016/j.ymgme.2013.05.010. Epub 2013 May 30. Mol Genet Metab. 2013. PMID: 23800641 Free PMC article.

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