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Genetic and clinical characteristics of Filipino patients with Gaucher disease.
Chiong MAD, Racoma MJC, Abacan MAR. Chiong MAD, et al. Mol Genet Metab Rep. 2018 Apr 5;15:110-115. doi: 10.1016/j.ymgmr.2018.03.010. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30023299 Free PMC article.
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
Chiong MA, Canson DM, Abacan MA, Baluyot MM, Cordero CP, Silao CL. Chiong MA, et al. Orphanet J Rare Dis. 2017 Jan 11;12(1):7. doi: 10.1186/s13023-016-0558-0. Orphanet J Rare Dis. 2017. PMID: 28077157 Free PMC article.
Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features.
Chiong MA, Tan MA, Cordero CP, Fodra EG, Manliguis JS, Lopez CP, Dalmacio LM. Chiong MA, et al. Mol Genet Metab Rep. 2016 Oct 12;9:46-53. doi: 10.1016/j.ymgmr.2016.10.004. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27761412 Free PMC article.
Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country.
De Castro-Hamoy LG, Chiong MA, Estrada SC, Cordero CP. De Castro-Hamoy LG, et al. Among authors: chiong ma. J Community Genet. 2017 Jan;8(1):9-15. doi: 10.1007/s12687-016-0281-5. Epub 2016 Oct 6. J Community Genet. 2017. PMID: 27714667 Free PMC article.
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group. Del Giudice E, et al. Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74. Orphanet J Rare Dis. 2014. PMID: 24884629 Free PMC article.
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.
Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA. Schrier SA, et al. Among authors: chiong ma. Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711679 Free PMC article.
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT. Chiu YH, et al. Among authors: chiong ma. J Hum Genet. 2012 Feb;57(2):145-52. doi: 10.1038/jhg.2011.146. Epub 2012 Jan 12. J Hum Genet. 2012. PMID: 22237589
Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients.
Lee JY, Chiong MA, Estrada SC, Cutiongco-De la Paz EM, Silao CL, Padilla CD. Lee JY, et al. Among authors: chiong ma. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S281-5. doi: 10.1007/s10545-008-0859-0. Epub 2008 Nov 10. J Inherit Metab Dis. 2008. PMID: 18989748
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