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

по Abacan, Mary Ann, Chiong, Mary Anne D.
Опубликовано в: 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

по Abacan, Mary Ann, Boquiren, Ryan Albert Leonard, Elepano, Imarzen, Alcausin, Maria Melanie
Опубликовано в: Ann Transl Med (2015)

Genetic and clinical characteristics of Filipino patients with Gaucher disease

по Chiong, Mary Anne D., Racoma, Marie Julianne C., Abacan, Mary Ann R.
Опубликовано в: Mol Genet Metab Rep (2018)

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

по Abadingo, Michelle E., Abacan, Mary Ann R., Basas, Jeanne Ruth U., Padilla, Carmencita D.
Опубликовано в: Mol Genet Metab Rep (2021)

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

по Maceda, Ebner Bon Gatus, Kratz, Lisa E, Ramos, Veronica Marie E, Abacan, Mary Ann R
Опубликовано в: 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

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

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

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

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

по 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
Опубликовано в: BMJ Case Rep (2021)

The Global State of the Genetic Counseling Profession

по 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
Опубликовано в: Eur J Hum Genet (2018)