Chiong MA - Search Results

1

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.

2

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.

3

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.

4

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.

5

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.

6

Maple syrup urine disease associated with nephrotic syndrome in a Filipino child.

Maceda EBG, Abadingo ME, Magbanua-Calalo CJ, Dator MA, Resontoc LPR, Castro-Hamoy L, Abacan MAR, Chiong MAD, Estrada SC. Maceda EBG, et al. Among authors: chiong mad. BMJ Case Rep. 2021 Jul 29;14(7):e242689. doi: 10.1136/bcr-2021-242689. BMJ Case Rep. 2021. PMID: 34326111 Free PMC article.

7

A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry.

Racoma MJC, Calibag MKKB, Cordero CP, Abacan MAR, Chiong MAD. Racoma MJC, et al. Among authors: chiong mad. Orphanet J Rare Dis. 2021 Jul 21;16(1):323. doi: 10.1186/s13023-021-01875-5. Orphanet J Rare Dis. 2021. PMID: 34289859 Free PMC article. Review.

8

Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant.

Yumul RCR, Chiong MAD. Yumul RCR, et al. Among authors: chiong mad. Case Rep Genet. 2022 May 21;2022:3388879. doi: 10.1155/2022/3388879. eCollection 2022. Case Rep Genet. 2022. PMID: 35637708 Free PMC article.

9

Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry.

Padilla CD, Therrell BL Jr, Alcausin MMLB, Chiong MAD, Abacan MAR, Reyes MEL, Jomento CM, Dizon-Escoreal MTT, Canlas MAE, Abadingo ME, Posecion JEWC, Abarquez CG, Andal AP, Elizaga ALG, Halili-Mendoza BC, Otayza MPVK, Millington DS. Padilla CD, et al. Among authors: chiong mad. Int J Neonatal Screen. 2022 Jan 19;8(1):8. doi: 10.3390/ijns8010008. Int J Neonatal Screen. 2022. PMID: 35225931 Free PMC article.

10

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.

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