| 2020 |
Ferreira CR, Regier DS, Yoon R, Pan KS, Johnston JM, Yang S, Spranger JW, Tifft CJ. The skeletal phenotype of intermediate GM1 gangliosidosis: clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention. Bone. February 2020;131:115142. |
0 |
0 |
| 2020 |
Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone. April 2020;133:115219. |
0 |
0 |
| 2023 |
Paganini C, Carroll RS, Gramegna Tota C, Schelhaas AJ, Leone A, Duker AL, O'Connell DA, Coghlan RF, Johnstone B, Ferreira CR, Peressini S, Albertini R, Forlino A, Bonafé L, Campos-Xavier AB, Superti-Furga A, Zankl A, Rossi A, Bober MB. Identification of potential non-invasive biomarkers in diastrophic dysplasia. Bone. October 2023;175:116838. |
0 |
0 |
| 2021 |
Ferreira CR, Kavanagh D, Oheim R, Zimmerman K, Stürznickel J, Li X, Stabach P, Rettig RL, Calderone L, MacKichan C, Wang A, Hutchinson HA, Nelson T, Tommasini SM, von Kroge S, Fiedler IAK, Lester ER, Moeckel GW, Busse B, Schinke T, Carpenter TO, Levine MA, Horowitz MC, Braddock DT. Response of the ENPP1-deficient skeletal phenotype to oral phosphate supplementation and/or enzyme replacement therapy: comparative studies in humans and mice. J Bone Miner Res. May 2021;36(5):942-955. |
3 |
0 |
| 2022 |
Ferreira CR, Ansh AJ, Nester C, O'Brien C, Stabach PR, Murtada S-I, Lester ER, Khursigara G, Molloy L, Carpenter TO, Braddock DT. Musculoskeletal comorbidities and quality of life in ENPP1-deficient adults and the response of enthesopathy to enzyme replacement therapy in murine models. J Bone Miner Res. March 2022;37(3):494-504. |
1 |
1 |
| 2022 |
Hartley IR, Gafni RI, Roszko KL, Brown SM, de Castro LF, Saikali A, Ferreira CR, Gahl WA, Pacak K, Blau JE, Boyce AM, Salusky IB, Collins MT, Florenzano P. Determination of FGF23 levels for the diagnosis of FGF23-mediated hypophosphatemia. J Bone Miner Res. November 2022;37(11):2174-2185. |
0 |
0 |