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Mary Ann Abacan
Mary Ann Abacan
Clinical Geneticist
Verified email at up.edu.ph
Title
Cited by
Cited by
Year
The global state of the genetic counseling profession
MA Abacan, L Alsubaie, K Barlow-Stewart, B Caanen, C Cordier, ...
European Journal of Human Genetics 27 (2), 183-197, 2019
3022019
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II-Hunter syndrome
MAD Chiong, DM Canson, MAR Abacan, MMP Baluyot, CP Cordero, ...
Orphanet Journal of Rare Diseases 12, 1-11, 2017
302017
Use of Carglumic Acid in the Treatment of Hyperammonemia during Metabolic Decompensation of Patients with Propionic Acidemia
MA Abacan, A Boneh
Molecular Genetics and Metabolism 4 (109), 397-401, 2013
232013
Genetic and clinical characteristics of Filipino patients with Gaucher disease
MAD Chiong, MJC Racoma, MAR Abacan
Molecular Genetics and Metabolism Reports 15, 110-115, 2018
122018
Genetic and Clinical Characteristics of Filipino Patients with Gaucher Disease
MA Chiong, MJ Racoma, MA Abacan
Molecular Genetics and Metabolism Reports, 110-115, 2018
122018
Successful implementation of expanded newborn screening in the Philippines using tandem mass spectrometry
CD Padilla, BL Therrell, MMLB Alcausin, MAD Chiong, MAR Abacan, ...
International journal of neonatal screening 8 (1), 8, 2022
82022
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
MJC Racoma, MKKB Calibag, CP Cordero, MAR Abacan, MAD Chiong
Orphanet Journal of Rare Diseases 16, 1-16, 2021
62021
Pregnancy in an adolescent with maple syrup urine disease: Case report
ME Abadingo, MAR Abacan, JRU Basas, CD Padilla
Molecular Genetics and Metabolism Reports 27, 100745, 2021
32021
Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome
EBG Maceda, LE Kratz, VME Ramos, MAR Abacan
BMJ Case Reports CP 13 (11), e236859, 2020
32020
Profile of hospital transplant ethics committees in the Philippines
MA Abacan
Developing World Bioethics 21 (3), 139-146, 2021
22021
Telegenetics services in a tertiary hospital: utility and patient satisfaction
IAV Herlao, EBG Maceda, MAR Abacan, LG de Castro Hamoy, ...
Acta Medica Philippina 57 (8), 2023
12023
Carnitine-acylcarnitine Translocase Deficiency with c. 199-10T> G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
SMG Carmona, MAR Abacan, MMLB Alcausin
International Journal of Neonatal Screening 9 (1), 4, 2023
12023
Results of clinical evaluations of Filipino patients with Mucopolysaccharidosis type II (Hunter Syndrome) in a one stop multidisciplinary Clinic at the Philippine General …
MAD Chiong, AGD Berboso, MMP Baluyot, MAR Abacan
Acta Medica Philippina, 2013
12013
Classical homocystinuria in two Filipino patients
MAR Abacan, RJ Casis, S Capistrano-Estrada, MAD Chiong
Acta Medica Philippina 45 (4), 2011
12011
Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program
MEV Orteza, MAR Abacan
Acta Medica Philippina, 2023
2023
A Filipino Child with Schinzel-Giedion Syndrome
MAR Abacan, RAM Salonga-Quimpo
Acta Medica Philippina 57 (4), 2023
2023
SOLAMEN Syndrome in a Filipino Child
EBG Maceda, MAR Abacan
Acta Medica Philippina 56 (17), 2022
2022
Mixed Gonadal Dysgenesis with an Ovarian Germ Cell Tumor in a Filipino Adolescent
MJC Racoma, JKM Pascual, EAG Salonga, MAR Abacan
Acta Medica Philippina 56 (3), 2022
2022
Berardinelli-Seip Congenital Lipodystrophy in a Filipino Child
EBG Maceda, CAY Tan, JRU Basas, MAR Abacan
Acta Medica Philippina 56 (3), 2022
2022
Maple syrup urine disease associated with nephrotic syndrome in a Filipino child
EBG Maceda, ME Abadingo, CJ Magbanua-Calalo, MA Dator, ...
BMJ Case Reports CP 14 (7), e242689, 2021
2021
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