NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent

por Langley, Elizabeth, Farach, Laura S., Koenig, Mary K., Northrup, Hope, Rodriguez‐Buritica, David F., Mowrey, Kate
Publicado 2022

Two Cases of Fatal Hyperammonemia Syndrome due to Mycoplasma hominis and Ureaplasma urealyticum in Immunocompromised Patients Outside Lung Transplant Recipients

por Nowbakht, Cima, Edwards, Angelina R, Rodriguez-Buritica, David F, Luce, Andrea M, Doshi, Pratik B, De Golovine, Aleksandra, Bynon, John S, Nigo, Masayuki
Publicado 2019

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

por Nahm, Nickolas J., Mackenzie, W. G. Stuart, Mackenzie, William G., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria Elena, Smid, Cory J., Hoover-Fong, Julie, Bober, Michael B.
Publicado 2023

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

por Hoover-Fong, Julie E., Alade, Adekemi Y., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Liu, Chengxin, McGready, John, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Schulze, Kerry J., Serna, Maria Elena, Smid, Cory J., Bober, Michael B.
Publicado 2021

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

por Derks, Terry G. J., Rodriguez-Buritica, David F., Ahmad, Ayesha, de Boer, Foekje, Couce, María L., Grünert, Sarah C., Labrune, Philippe, López Maldonado, Nerea, Fischinger Moura de Souza, Carolina, Riba-Wolman, Rebecca, Rossi, Alessandro, Saavedra, Heather, Gupta, Rupal Naik, Valayannopoulos, Vassili, Mitchell, John
Publicado 2021

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort...

por Hoover-Fong, Julie E., Schulze, Kerry J., Alade, Adekemi Y., Bober, Michael B., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria E., Smid, Cory, Liu, Chengxin, McGready, John
Publicado 2021