Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

por Yumul, Rhea Camille R., Chiong, Mary Anne D.
Publicado 2022

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

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

Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features

por Chiong, Mary Anne D., Tan, Marilyn A., Cordero, Cynthia P., Fodra, Esphie Grace D., Manliguis, Judy S., Lopez, Cristine P., Dalmacio, Leslie Michelle M.
Publicado 2016

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