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110 results

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Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Wasserstein MP, Lachmann R, Hollak C, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Hennermann JB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Thurberg BL, Yarramaneni A, Armstrong NM, Kim Y, Kumar M. Wasserstein MP, et al. Among authors: tchan m. Orphanet J Rare Dis. 2023 Dec 2;18(1):378. doi: 10.1186/s13023-023-02983-0. Orphanet J Rare Dis. 2023. PMID: 38042851 Free PMC article.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
Stepien KM, Langendonk JG, Dao M, Gomes DC, Douillard C, Filipsson K, Glamuzina E, Haverkamp JA, Langeveld M, Lehman A, de Lonlay P, Lund AM, Oscarson M, Peltenburg NC, Ramadža DP, Ramachandran R, Reismann P, Shtylla A, Tchan M, Tan CY, Wilson C, Woodall A, Murphy E, Wagenmakers MAEM. Stepien KM, et al. Among authors: tchan m. J Inherit Metab Dis. 2024 Nov;47(6):1239-1259. doi: 10.1002/jimd.12695. Epub 2023 Dec 9. J Inherit Metab Dis. 2024. PMID: 38069502 Review.
A protocol for the identification and validation of novel genetic causes of kidney disease.
Mallett A, Patel C, Maier B, McGaughran J, Gabbett M, Takasato M, Cameron A, Trnka P, Alexander SI, Rangan G, Tchan MC, Caruana G, John G, Quinlan C, McCarthy HJ, Hyland V, Hoy WE, Wolvetang E, Taft R, Simons C, Healy H, Little M. Mallett A, et al. Among authors: tchan mc. BMC Nephrol. 2015 Sep 15;16:152. doi: 10.1186/s12882-015-0148-8. BMC Nephrol. 2015. PMID: 26374634 Free PMC article.
KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease.
Rangan GK, Alexander SI, Campbell KL, Dexter MA, Lee VW, Lopez-Vargas P, Mai J, Mallett A, Patel C, Patel M, Tchan MC, Tong A, Tunnicliffe DJ, Vladica P, Savige J. Rangan GK, et al. Among authors: tchan mc. Nephrology (Carlton). 2016 Aug;21(8):705-16. doi: 10.1111/nep.12658. Nephrology (Carlton). 2016. PMID: 26511892 Review. No abstract available.
Autosomal Dominant Polycystic Kidney Disease: A Path Forward.
Rangan GK, Lopez-Vargas P, Nankivell BJ, Tchan M, Tong A, Tunnicliffe DJ, Savige J. Rangan GK, et al. Among authors: tchan m. Semin Nephrol. 2015 Nov;35(6):524-37. doi: 10.1016/j.semnephrol.2015.10.002. Semin Nephrol. 2015. PMID: 26718155 Review.
Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD.
Li J, Shingde M, Nankivell BJ, Tchan MC, Bose B, Chapman JR, Kable K, Kim SK, Vucak-Dzumhur M, Wong G, Rangan GK. Li J, et al. Among authors: tchan mc. Kidney Int Rep. 2019 May 7;4(8):1161-1170. doi: 10.1016/j.ekir.2019.04.021. eCollection 2019 Aug. Kidney Int Rep. 2019. PMID: 31440706 Free PMC article. No abstract available.
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