Tsai JD - Search Results

1

Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.

Lo YF, Yang SS, Seki G, Yamada H, Horita S, Yamazaki O, Fujita T, Usui T, Tsai JD, Yu IS, Lin SW, Lin SH. Lo YF, et al. Among authors: tsai jd. Kidney Int. 2011 Apr;79(7):730-41. doi: 10.1038/ki.2010.523. Epub 2011 Jan 12. Kidney Int. 2011. PMID: 21228764 Free article.

2

Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel.

Lin CM, Tsai JD, Lo YF, Yan MT, Yang SS, Lin SH. Lin CM, et al. Among authors: tsai jd. Eur J Pediatr. 2009 Sep;168(9):1129-33. doi: 10.1007/s00431-008-0883-y. Epub 2008 Dec 3. Eur J Pediatr. 2009. PMID: 19050915

3

Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?

Tsai HY, Lin SH, Lin CC, Huang FY, Lee MD, Tsai JD. Tsai HY, et al. Among authors: tsai jd. Pediatr Nephrol. 2011 Oct;26(10):1903-7. doi: 10.1007/s00467-011-1918-6. Epub 2011 May 26. Pediatr Nephrol. 2011. PMID: 21614596

4

Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.

Tseng MH, Yang SS, Hsu YJ, Fang YW, Wu CJ, Tsai JD, Hwang DY, Lin SH. Tseng MH, et al. Among authors: tsai jd. J Clin Endocrinol Metab. 2012 Aug;97(8):E1478-82. doi: 10.1210/jc.2012-1707. Epub 2012 Jun 7. J Clin Endocrinol Metab. 2012. PMID: 22679066

5

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

Lin PY, Tseng MH, Zenker M, Rao J, Hildebrandt F, Lin SH, Lin CC, Chang JH, Hsu CH, Lee MD, Lin SP, Tsai JD. Lin PY, et al. Among authors: tsai jd. Orphanet J Rare Dis. 2018 Dec 17;13(1):226. doi: 10.1186/s13023-018-0961-9. Orphanet J Rare Dis. 2018. PMID: 30558655 Free PMC article.

6

Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan.

Tseng MH, Tsai JD, Tsai IJ, Huang SM, Huang JL, Fan WL, Lee HJ, Wu TW, Lin SH. Tseng MH, et al. Among authors: tsai jd, tsai ij. Clin Chim Acta. 2019 Jul;494:143-150. doi: 10.1016/j.cca.2019.03.1623. Epub 2019 Mar 21. Clin Chim Acta. 2019. PMID: 30905589

7

Clinical features, genetic background, and outcome in infants with urinary tract infection and type IV renal tubular acidosis.

Tseng MH, Huang JL, Huang SM, Tsai JD, Wu TW, Fan WL, Ding JJ, Lin SH. Tseng MH, et al. Among authors: tsai jd. Pediatr Res. 2020 Jun;87(7):1251-1255. doi: 10.1038/s41390-019-0727-7. Epub 2019 Dec 18. Pediatr Res. 2020. PMID: 31852011

8

Autosomal Recessive Renal Tubular Dysgenesis Caused by a Founder Mutation of Angiotensinogen.

Tseng MH, Huang SM, Huang JL, Fan WL, Konrad M, Shaw SW, Lien R, Chien HP, Ding JJ, Wu TW, Tsai JD, Tian YC, Lee HJ, Cheng PJ, Hsu JF, Lin SH. Tseng MH, et al. Among authors: tsai jd. Kidney Int Rep. 2020 Aug 20;5(11):2042-2051. doi: 10.1016/j.ekir.2020.08.011. eCollection 2020 Nov. Kidney Int Rep. 2020. PMID: 33163725 Free PMC article.

9

Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.

Yan MT, Yang SS, Tseng MH, Cheng CJ, Tsai JD, Sung CC, Hsu YJ, Lin SH. Yan MT, et al. Among authors: tsai jd. NPJ Genom Med. 2021 Aug 13;6(1):68. doi: 10.1038/s41525-021-00230-8. NPJ Genom Med. 2021. PMID: 34389731 Free PMC article.

10

Atypical hemolytic uremic syndrome: Consensus of diagnosis and treatment in Taiwan.

Tseng MH, Lin SH, Tsai JD, Wu MS, Tsai IJ, Chen YC, Chang MC, Chou WC, Chiou YH, Huang CC. Tseng MH, et al. Among authors: tsai jd, tsai ij. J Formos Med Assoc. 2023 May;122(5):366-375. doi: 10.1016/j.jfma.2022.10.006. Epub 2022 Oct 30. J Formos Med Assoc. 2023. PMID: 36323601 Free article.

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