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The genetic and biochemical basis of trimethylaminuria in an Irish cohort.
Doyle S, O'Byrne JJ, Nesbitt M, Murphy DN, Abidin Z, Byrne N, Pastores G, Kirk R, Treacy EP. Doyle S, et al. Among authors: pastores g. JIMD Rep. 2019 Mar 25;47(1):35-40. doi: 10.1002/jmd2.12028. eCollection 2019 May. JIMD Rep. 2019. PMID: 31240165 Free PMC article.
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Treacy EP, Vencken S, Bosch AM, Gautschi M, Rubio-Gozalbo E, Dawson C, Nerney D, Colhoun HO, Shakerdi L, Pastores GM, O'Flaherty R, Saldova R. Treacy EP, et al. Among authors: pastores gm. JIMD Rep. 2021 Jul 22;61(1):76-88. doi: 10.1002/jmd2.12237. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485021 Free PMC article.
Metallosis mimicking a metabolic disorder: a case report.
Stepien KM, Abidin Z, Lee G, Cullen R, Logan P, Pastores GM. Stepien KM, et al. Among authors: pastores gm. Mol Genet Metab Rep. 2018 Sep 25;17:38-41. doi: 10.1016/j.ymgmr.2018.09.005. eCollection 2018 Dec. Mol Genet Metab Rep. 2018. PMID: 30271721 Free PMC article.
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
de Ru MH, Teunissen QG, van der Lee JH, Beck M, Bodamer OA, Clarke LA, Hollak CE, Lin SP, Rojas MV, Pastores GM, Raiman JA, Scarpa M, Treacy EP, Tylki-Szymanska A, Wraith JE, Zeman J, Wijburg FA. de Ru MH, et al. Orphanet J Rare Dis. 2012 Apr 23;7:22. doi: 10.1186/1750-1172-7-22. Orphanet J Rare Dis. 2012. PMID: 22524701 Free PMC article.
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.
Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Shaywitz AJ. Berger KI, et al. JIMD Rep. 2018;42:9-17. doi: 10.1007/8904_2017_70. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159458 Free PMC article.
218 results