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Acta Medica Philippina|November 1, 2024
Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening ProgramMary Erika V Orteza, Mary Ann R Abacan
JIMD Reports|December 26, 2024
Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort studyChristine Mae S Avila, Mary Ann R Abacan
Acta Medica Philippina|December 2, 2024
A Filipino Child with Schinzel-Giedion SyndromeMary Ann R Abacan, Rhea Angela M Salonga-Quimpo
Molecular Genetics and Metabolism Reports|July 20, 2018
Genetic and clinical characteristics of Filipino patients with Gaucher diseaseMary Anne D Chiong, Marie Julianne C Racoma, Mary Ann R Abacan
International Journal of Neonatal Screening|January 17, 2023
Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier TestingSuzanne Marie G Carmona, Mary Ann R Abacan, Maria Melanie Liberty B Alcausin
Molecular Genetics and Metabolism Reports|April 19, 2021
Pregnancy in an adolescent with maple syrup urine disease: Case reportMichelle E Abadingo, Mary Ann R Abacan, Jeanne Ruth U Basas, et al.
BMJ Case Reports|November 3, 2020
Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndromeEbner Bon Gatus Maceda, Lisa E Kratz, Veronica Marie E Ramos, et al.
Acta Medica Philippina|July 1, 2026
Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental DisordersMary Ann R Abacan, Kathryn R Baltazar-Braganza, Ian Theodore G Cabaluna, et al.
Orphanet Journal of Rare Diseases|July 22, 2021
A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registryMarie Julianne C Racoma, Maria Kristina Karizza B Calibag, Cynthia P Cordero, et al.
Orphanet Journal of Rare Diseases|January 13, 2017
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndromeMary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, et al.
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