Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
Drelichman, Guillermo I., Fernández Escobar, Nicolas, Soberon, Barbara C., Basack, Nora F., Frabasil, Joaquin, Schenone, Andrea B., Aguilar, Gabriel, Larroudé, Maria S., Knight, James R., Zhao, Dejian, Ruan, Jiapeng, Mistry, Pramod K.
Published in Molecular genetics and metabolism reports (01.12.2021)
Published in Molecular genetics and metabolism reports (01.12.2021)
Get full text
Journal Article
Retrospective epidemiological study of Latin American patients with transfusional hemosiderosis: the first Latin American epidemiological study in iron overload - the RELATH study
Lobo, Clarisse, Ăngulo, Ivan L, Aparicio, Lidia R, Drelichman, Guillermo I, Zanichelli, Maria A, Cancado, Rodolfo
Published in Hematology (Luxembourg) (01.09.2011)
Published in Hematology (Luxembourg) (01.09.2011)
Get full text
Journal Article
ELIKIDS: Baseline characteristics from the eliglustat substrate reduction therapy trial in children with Gaucher disease type 1 or type 3
Giraldo, Pilar, Gokcay, Gulden, Batsu, Isabela, Kissell, Julie, Perichon, Maria G., Drelichman, Guillermo I.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
Get full text
Journal Article
Consequences of late diagnosis and treatment in patients with Gaucher disease type 1: Experience of the Argentine group
Soberon, Barbara C., Drelichman, Guillermo I., Escobar, Nicolas Fernandez, Basack, Nora, Aguilar, Gabriel, Larroude, Maria Silvia, Rocaspana, Adriana E., Carvani, Analia G., Arizó, Adriana D.V., Borchichi, Sandra R., Cedola, Maria A., Cuello, Maria F., Avalos, Vanesa, Diez, Blanca, Dragosky, Marta, Kantor, Gustavo L., Nucifora, Elsa M., Pujal, Graciela, Reichel, Paola L., Degano, Adriana N., Watman, Nora, Elena, Graciela O., Guelbert, Norberto, Chain, Juan J., Aznar, Marcela A.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
Get full text
Journal Article
Encore - a Randomized, Controlled, Open-Label Non-Inferiority Study Comparing Eliglustat to Imiglucerase in Gaucher Disease Type 1 Patients Stabilized on Enzyme Replacement Therapy: 24-Month Results
Rosenbloom, Barry E., Cox, Timothy M., Drelichman, Guillermo I., Cravo, Renata, Balwani, Manisha, Burrow, Thomas Andrew, Martins, Ana Maria, Lukina, Elena, Ross, Leorah H., Angell, Jennifer, Peterschmitt, Judith
Published in Blood (06.12.2014)
Published in Blood (06.12.2014)
Get full text
Journal Article
New Prognostic Factors in the Assessment of Bone Complications in Gaucher Disease. Report from the Argentinian Group for Diagnostic and Treatment for Gaucher Disease
Drelichman, Guillermo I., Fernandez Escobar, Nicolas, Basack, Nora F, Larroude, Maria S, Aguilar, Gabriel, Robledo, Hugo, Feldman, Leonardo J, Elena, Graciela, Watman, Nora, Bolesina, Moira, Chain, Juan Jose, Reichel, Paola, Ruiz, Alba A, Cuello, Maria F, Fynn, Alcira B, Aznar, Marcela A, Dragosky, Marta, Guelbert, Norberto B, Arizo, Adriana, Pujal, Graciela A, Muller, Katja G
Published in Blood (06.12.2014)
Published in Blood (06.12.2014)
Get full text
Journal Article
ENCORE, a randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients stabilized on enzyme replacement therapy: 24-month results
Cox, Timothy M., Drelichman, Guillermo I., Cravo, Renata, Balwani, Manisha, Burrow, Thomas Andrew, Martins, Ana Maria, Lukina, Elena, Rosenbloom, Barry E., Ross, Leorah H., Angell, Jennifer, Peterschmitt, M. Judith
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
Get full text
Journal Article
PETIT and PETIT 2: Treatment with Eltrombopag in 171 Children with Chronic Immune Thrombocytopenia (ITP)
Bussel, James B., Grainger, John D., Garcia de Miguel, Purificacion, Despotovic, Jenny M., Locatelli, Franco, Chotsampancharoen, Thirachit, Donyush, Elena K., Sevilla Navarro, Julian, Pongtanakul, Bunchoo, Komvilaisak, Patcharee, Sosothikul, Darintr, Blanchette, Victor S., Drelichman, Guillermo I., Krishnamurti, Lakshmanan, Sirachainan, Nongnuch, Connor, Philip, David, Michele, Holzhauer, Susanne, Lebedev, Vladimir, Lemons, Richard S., Pospisilova, Dagmar, Ramenghi, Ugo, Boayue, Koh B., Matthews, Dana C., Marcello, Lisa M., Iyengar, Malini, Chan, Geoffrey W., Chagin, Karen D., Theodore, Dickens, Bakshi, Kalpana K., Bailey, Christine K.
Published in Blood (06.12.2014)
Published in Blood (06.12.2014)
Get full text
Journal Article
Inherited Bone Marrow Failure Syndromes in Children: 32 Years Experience in a Single Institution
Drelichman, Guillermo I., Basack, Nora F., Maro, Alejandra, Schwalb, Graciela, Freigeiro, Daniel H., Pennesi, Sandra, Moran, Lorena, Awdejczuk, Ana, Aversa, Luis
Published in Blood (16.11.2005)
Published in Blood (16.11.2005)
Get full text
Journal Article