Genetic and clinical characteristics of Filipino patients with Gaucher disease

por Chiong, Mary Anne D., Racoma, Marie Julianne C., Abacan, Mary Ann R.
Publicado 2018

Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing

por Carmona, Suzanne Marie G., Abacan, Mary Ann R., Alcausin, Maria Melanie Liberty B.
Publicado 2023

Pregnancy in an adolescent with maple syrup urine disease: Case report

por Abadingo, Michelle E., Abacan, Mary Ann R., Basas, Jeanne Ruth U., Padilla, Carmencita D.
Publicado 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 registry

por Racoma, Marie Julianne C., Calibag, Maria Kristina Karizza B., Cordero, Cynthia P., Abacan, Mary Ann R., Chiong, Mary Anne D.
Publicado 2021

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome

por Chiong, Mary Anne D., Canson, Daffodil M., Abacan, Mary Ann R., Baluyot, Melissa Mae P., Cordero, Cynthia P., Silao, Catherine Lynn T.
Publicado 2017

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

por Padilla, Carmencita D., Therrell, Bradford L., Alcausin, Maria Melanie Liberty B., Chiong, Mary Anne D., Abacan, Mary Ann R., Reyes, Ma. Elouisa L., Jomento, Charity M., Dizon-Escoreal, Maria Truda T., Canlas, Margarita Aziza E., Abadingo, Michelle E., Posecion, J. Edgar Winston C., Abarquez, Conchita G., Andal, Alma P., Elizaga, Anna Lea G., Halili-Mendoza, Bernadette C., Otayza, Maria Paz Virginia K., Millington, David S.
Publicado 2022