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 | 302 | 2019 |
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 | 30 | 2017 |
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 | 23 | 2013 |
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 | 12 | 2018 |
Genetic and Clinical Characteristics of Filipino Patients with Gaucher Disease MA Chiong, MJ Racoma, MA Abacan Molecular Genetics and Metabolism Reports, 110-115, 2018 | 12 | 2018 |
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 | 8 | 2022 |
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 | 6 | 2021 |
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 | 3 | 2021 |
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 | 3 | 2020 |
Profile of hospital transplant ethics committees in the Philippines MA Abacan Developing World Bioethics 21 (3), 139-146, 2021 | 2 | 2021 |
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 | 1 | 2023 |
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 | 1 | 2023 |
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 | 1 | 2013 |
Classical homocystinuria in two Filipino patients MAR Abacan, RJ Casis, S Capistrano-Estrada, MAD Chiong Acta Medica Philippina 45 (4), 2011 | 1 | 2011 |
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 |