If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Dorinda Marques da Silva is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Congenital Disorders of Glycosylation Medicine & Life Sciences
Metabolic Diseases Medicine & Life Sciences
Guidelines Medicine & Life Sciences
Names Medicine & Life Sciences
Quality of Life Medicine & Life Sciences
Publications Medicine & Life Sciences
Expert Testimony Medicine & Life Sciences
Therapeutics Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output at NOVA 2018 2019

  • 7 Citations
  • 1 h-Index
  • 2 Review article
  • 1 Comment/debate

Corrigendum to: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up (Journal of Inherited Metabolic Disease, (2019), 42, 1, (5-28), 10.1002/jimd.12024)

Altassan, R., Péanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., Morena-Barrio, M. E. D. L., Lonlay, P. D., Ferreira, V. D. R., Ferreira, C. R., Fiumara, A., Francisco, R., Freeze, H., Funke, S. & 34 others, Gardeitchik, T., Gert, M., Girad, M., Giros, M., Grünewald, S., Hernández-Caselles, T., Honzik, T., Hutter, M., Krasnewich, D., Lam, C., Lee, J., Lefeber, D., Marques-Da-Silva, D., Martinez, A. F., Moravej, H., Ounap, K., Pascoal, C., Pascreau, T., Patterson, M., Quelhas, D., Raymond, K., Sarkhail, P., Schiff, M., Seroczyńska, M., Serrano, M., Seta, N., Sykut-Cegielska, J., Thiel, C., Tort, F., Vals, M-A., Videira, P. A., Witters, P., Zeevaert, R. & Morava, E., 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, 1 p.

Research output: Contribution to journalComment/debate

Congenital Disorders of Glycosylation
Metabolic Diseases
Names
Guidelines
Publications
6 Citations (Scopus)
2 Downloads (Pure)

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Altassan, R., Péanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., Morena-Barrio, M. E. D. L., de Lonlay, P., Reis, V. D., Ferreira, C. R., Fiumara, A., Francisco, R., Freeze, H., Funke, S. & 34 others, Gardeitchik, T., Gert, M., Girad, M., Giros, M., Grünewald, S., Hernández-Caselles, T., Honzik, T., Hutter, M., Krasnewich, D., Lam, C., Lee, J., Lefeber, D., Marques-da-Silva, D., Martinez, A. F., Moravej, H., Õunap, K., Pascoal, C., Pascreau, T., Patterson, M., Quelhas, D., Raymond, K., Sarkhail, P., Schiff, M., Seroczyńska, M., Serrano, M., Seta, N., Sykut-Cegielska, J., Thiel, C., Tort, F., Vals, M. A., Videira, P., Witters, P., Zeevaert, R. & Morava, E., 1 Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 5-28 24 p.

Research output: Contribution to journalReview article

Open Access
File
Congenital Disorders of Glycosylation
Guidelines
Expert Testimony
Therapeutics
phosphomannomutase
1 Citation (Scopus)
Open Access
Metabolic Diseases
Quality of Life
Patient Reported Outcome Measures
Proxy
Research