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Enzyme replacement therapy desensitization in a child with infantile onset Pompe disease.
Asian Pac J Allergy Immunol. 2022 Dec;40(4):414-417. doi: 10.12932/AP-060919-0638.
Asian Pac J Allergy Immunol. 2022.
PMID: 32061243
Free article.
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.
Heng TYJ, Ow JR, Koh AL, Lim JSC, Ong CBK, Goh JCY, Lim JY, Chiou FK, Jamuar SS.
Heng TYJ, et al. Among authors: goh jcy.
Clin Dysmorphol. 2024 Jan 1;33(1):43-49. doi: 10.1097/MCD.0000000000000475. Epub 2023 Oct 13.
Clin Dysmorphol. 2024.
PMID: 37865865
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Turner syndrome in diverse populations.
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M.
Kruszka P, et al.
Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19.
Am J Med Genet A. 2020.
PMID: 31854143
Free PMC article.
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