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Pregnancy in an adolescent with maple syrup urine disease: Case report.
Mol Genet Metab Rep. 2021 Mar 26;27:100745. doi: 10.1016/j.ymgmr.2021.100745. eCollection 2021 Jun.
Mol Genet Metab Rep. 2021.
PMID: 33868929
Free PMC article.
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: abacan mar.
BMJ Case Rep. 2021 Jul 29;14(7):e242689. doi: 10.1136/bcr-2021-242689.
BMJ Case Rep. 2021.
PMID: 34326111
Free PMC article.
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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: abacan mar.
Int J Neonatal Screen. 2022 Jan 19;8(1):8. doi: 10.3390/ijns8010008.
Int J Neonatal Screen. 2022.
PMID: 35225931
Free PMC article.
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Genetic and clinical characteristics of Filipino patients with Gaucher disease.
Chiong MAD, Racoma MJC, Abacan MAR.
Chiong MAD, et al. Among authors: abacan mar.
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.
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Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.
Maceda EBG, Kratz LE, Ramos VME, Abacan MAR.
Maceda EBG, et al. Among authors: abacan mar.
BMJ Case Rep. 2020 Nov 2;13(11):e236859. doi: 10.1136/bcr-2020-236859.
BMJ Case Rep. 2020.
PMID: 33139364
Free PMC article.
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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.
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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: abacan mar.
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.
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Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing.
Carmona SMG, Abacan MAR, Alcausin MMLB.
Carmona SMG, et al. Among authors: abacan mar.
Int J Neonatal Screen. 2023 Jan 11;9(1):4. doi: 10.3390/ijns9010004.
Int J Neonatal Screen. 2023.
PMID: 36648771
Free PMC article.
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