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

af Abacan, Mary Ann, Chiong, Mary Anne D.
Udgivet i 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

af Abacan, Mary Ann, Boquiren, Ryan Albert Leonard, Elepano, Imarzen, Alcausin, Maria Melanie
Udgivet i Ann Transl Med (2015)

Genetic and clinical characteristics of Filipino patients with Gaucher disease

af Chiong, Mary Anne D., Racoma, Marie Julianne C., Abacan, Mary Ann R.
Udgivet i Mol Genet Metab Rep (2018)

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

af Abadingo, Michelle E., Abacan, Mary Ann R., Basas, Jeanne Ruth U., Padilla, Carmencita D.
Udgivet i Mol Genet Metab Rep (2021)

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

af Maceda, Ebner Bon Gatus, Kratz, Lisa E, Ramos, Veronica Marie E, Abacan, Mary Ann R
Udgivet i 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

af Racoma, Marie Julianne C., Calibag, Maria Kristina Karizza B., Cordero, Cynthia P., Abacan, Mary Ann R., Chiong, Mary Anne D.
Udgivet i Orphanet J Rare Dis (2021)

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

af Chiong, Mary Anne D., Canson, Daffodil M., Abacan, Mary Ann R., Baluyot, Melissa Mae P., Cordero, Cynthia P., Silao, Catherine Lynn T.
Udgivet i Orphanet J Rare Dis (2017)

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

af 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
Udgivet i BMJ Case Rep (2021)

The Global State of the Genetic Counseling Profession

af 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
Udgivet i Eur J Hum Genet (2018)