AB120. Cholelithiasis in a Filipino child with chronic neuronopathic Gaucher disease: report of a case

por Abacan, Mary Ann, Chiong, Mary Anne D.
Publicado en Ann Transl Med (2017)

AB114. Change in bone mineral density of patients with osteogenesis imperfecta after 6 months of pamidronate therapy in the philippine general hospital: a retrospective review

por Abacan, Mary Ann, Boquiren, Ryan Albert Leonard, Elepano, Imarzen, Alcausin, Maria Melanie
Publicado en Ann Transl Med (2015)

Genetic and clinical characteristics of Filipino patients with Gaucher disease

por Chiong, Mary Anne D., Racoma, Marie Julianne C., Abacan, Mary Ann R.
Publicado en Mol Genet Metab Rep (2018)

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 en Mol Genet Metab Rep (2021)

Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome

por Maceda, Ebner Bon Gatus, Kratz, Lisa E, Ramos, Veronica Marie E, Abacan, Mary Ann R
Publicado en BMJ Case Rep (2020)

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 en Orphanet J Rare Dis (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 en Orphanet J Rare Dis (2017)

Maple syrup urine disease associated with nephrotic syndrome in a Filipino child

por Maceda, Ebner Bon G, Abadingo, Michelle E, Magbanua-Calalo, Cheryll J, Dator, Melissa A, Resontoc, Lourdes Paula R, Castro-Hamoy, Leniza De, Abacan, Mary Ann R, Chiong, Mary Anne D, Estrada, Sylvia C
Publicado en BMJ Case Rep (2021)

The Global State of the Genetic Counseling Profession

por Abacan, MaryAnn, Alsubaie, Lamia, Barlow-Stewart, Kristine, Caanen, Beppy, Cordier, Christophe, Courtney, Eliza, Davoine, Emeline, Edwards, Janice, Elackatt, Niby J., Gardiner, Kate, Guan, Yue, Huang, Lian-Hua, Malmgren, Charlotta Ingvoldstad, Kejriwal, Sahil, Kim, Hyon J., Lambert, Deborah, Lantigua-Cruz, Paulina Araceli, Lee, Juliana M. H., Lodahl, Marianne, Lunde, Åshild, Macaulay, Shelley, Macciocca, Ivan, Margarit, Sonia, Middleton, Anna, Moldovan, Ramona, Ngeow, Joanne, Obregon-Tito, Alexandra J., Ormond, Kelly E., Paneque, Milena, Powell, Karen, Sanghavi, Kunal, Scotcher, Diana, Scott, Jenna, Juhé, Clara Serra, Shkedi-Rafid, Shiri, Wessels, Tina-Marié, Yoon, Sook-Yee, Wicklund, Catherine
Publicado en Eur J Hum Genet (2018)