Charlotte A. Slade
AuthID: R-00J-HC0
1
TITLE: Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals Full Text
AUTHORS: Pascoal, C.; Ferreira, I; Teixeira, C.; Almeida, E.; Slade, A.; Brasil, S.; Francisco, R.; Ligezka, A. N.; Morava, E.; Plotkin, H.; Jaeken, J.; Videira, P. A.; Barros, L.; Ferreira, V. dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
AUTHORS: Pascoal, C.; Ferreira, I; Teixeira, C.; Almeida, E.; Slade, A.; Brasil, S.; Francisco, R.; Ligezka, A. N.; Morava, E.; Plotkin, H.; Jaeken, J.; Videira, P. A.; Barros, L.; Ferreira, V. dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
2
TITLE: Characterization of the Clinical and Immunological Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations Full Text
AUTHORS: Tiziana Lorenzini; Manfred Fliegauf; Nils Klammer; Natalie Frede; Michele Proietti; Alla Bulashevska; Nadezhda Camacho Ordonez; Markku Varjosalo; Matias Kinnunen; Esther de Vries; Jos W M van der Meer; Rohan Ameratunga; Chaim M Roifman; Yael D Schejter; Robin Kobbe; Timo Hautala; Faranaz Atschekzei; Reinhold E Schmidt; Claudia Schroeder; Polina Stepensky; ...More
PUBLISHED: 2020, SOURCE: Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference in JOURNAL OF CLINICAL IMMUNOLOGY, VOLUME: 40, ISSUE: SUPPL 1
AUTHORS: Tiziana Lorenzini; Manfred Fliegauf; Nils Klammer; Natalie Frede; Michele Proietti; Alla Bulashevska; Nadezhda Camacho Ordonez; Markku Varjosalo; Matias Kinnunen; Esther de Vries; Jos W M van der Meer; Rohan Ameratunga; Chaim M Roifman; Yael D Schejter; Robin Kobbe; Timo Hautala; Faranaz Atschekzei; Reinhold E Schmidt; Claudia Schroeder; Polina Stepensky; ...More
PUBLISHED: 2020, SOURCE: Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference in JOURNAL OF CLINICAL IMMUNOLOGY, VOLUME: 40, ISSUE: SUPPL 1
INDEXED IN: WOS