Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B

por Dokic, Yelena, Albahrani, Yasser, Phung, Thuy, Patel, Kalyani, de Guzman, Marietta, Hertel, Paula, Hunt, Raegan
Publicado 2020

449. Performance of the Brighton Case Definition for Multisystem Inflammatory Syndrome in Children (MIS-C) Among a Large Single Center Cohort

por Nguyen, Jessica, Osuna, Isabella, Muscal, Eyal, Sexson, Kristen, DeGuzman, Marietta, Munoz, Flor M, Vogel, Tiphanie
Publicado 2021

Lupus Nephritis, Autoantibody Production and Kidney Outcomes in Males with Childhood-Onset Systemic Lupus Erythematosus

por Wenderfer, Scott E., Orjuela, Alvaro, Bekheirnia, Mir Reza, Pereira, Maria, Muscal, Eyal, Braun, Michael C., De Guzman, Marietta
Publicado 2022

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

por Papendorf, Jonas Johannes, Ebstein, Frédéric, Alehashemi, Sara, Piotto, Daniela Gerent Petry, Kozlova, Anna, Terreri, Maria Teresa, Shcherbina, Anna, Rastegar, Andre, Rodrigues, Marta, Pereira, Renan, Park, Sophia, Lin, Bin, Uss, Kat, Möller, Sophie, da Silva Pina, Ana Flávia, Sztajnbok, Flavio, Torreggiani, Sofia, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Oler, Andrew J., McNinch, Colton, de Guzman, Marietta M., Fonseca, Adriana, Micheloni, Nicole, Fraga, Melissa Mariti, Perazzio, Sandro Félix, Goldbach-Mansky, Raphaela, de Jesus, Adriana A., Krüger, Elke
Publicado 2023