Study design: Development of an advanced machine learning algorithm for the early diagnosis of Gaucher disease using real-world data
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Shoshana Revel-Vilk, Gabriel Chodick, Varda Shalev, Noga Gadir (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
A qualitative study of the experience of venglustat for patients with Gaucher disease type 3 (GD3) in LEAP: A phase II open-label, multicenter, multinational study
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Camille Rochmann, James Turnbull, Robert Krupnick, Chad Gwaltney, Ruth Pulikotil-Jacob, Ali Hariri, Alaa Hamed (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Hematologic malignancies and monoclonal gammopathy of undetermined significance in Gaucher disease type 1 patients in the International Collaborative Gaucher Group Gaucher Registry
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Barry Rosenbloom, Maria D. Cappellini, Marta Dragosky, Neal J. Weinreb, Monica R. McClain, Davorka Sekulic, Pramod K. Mistry (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Gaucher disease mesenchymal stem cells showed reduced osteogenesis and increased osteoclastogenesis and adipogenesis
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Paula Rozenfeld, Andrea Crivaro, Constanza Bondar, Juan M. Mucci, Maximiliano Ormazabal, Ricardo Feldman, Victoria Delpino (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
KrabbeConnect patient journey map
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Anne Rugari, Carol Ogg, Dawn Laney, Stacy Pike-Langenfeld (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Emory Ryan, Grisel Lopez, Manisha Balwani, Deborah Barbouth, T. Andrew Burrow, Edward Ginns, Ozlem Goker-Alpan, Gregory Grabowski, Reena Kartha, Priya Kishnani, Heather Lau, Chung Lee, Pramod Mistry, Gustavo Maegawa, Seymour Packman, Carlos Prada, Barry Rosenbloom, Tamanna Roshan Lal, Raphael Schiffmann, Neal Weinreb (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Chelating effect of flax seed extract in rats overloaded with chondroitin sulfate: A new path in substrate reduction therapy for mucoplysccharidosis
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Es-said Sabir, Karima Lafhal, Abdelaati El Khiat, Miloud Hammoud, Aicha Ezoubeiri, Abdallah Karim, Naima Fdil (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Modeling potential interactions between oral Gaucher disease treatment and investigational COVID-19 therapies
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Siddhee A. Sahasrabudhe, Mahmoud Al-Kofahi, James C. Cloyd, Neal Weinreb, Reena V. Kartha (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Generating pluripotent stem-cell derived organoids to model Gaucher disease type 2
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Richard Sam, Yu Chen, Nahid Tayebi, Ellen Sidransky (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
CNS-targeting exosomes: A strategy to treat neurological lysosomal disorders
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): John Santelices, Mariola Edelmann, Gustavo Maegawa (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Comparing developmental outcomes of children with CLN2 disease receiving cerliponase alfa to a natural history cohort
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Jessica Scherr, Elizabeth Berry-Kravis, Emily de los Reyes (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Raphael Schiffmann, Timothy Cox, Jean-François Dedieu, Sebastiaan Gaemers, Julia B. Hennermann, Hiroyuki Ida, Eugen Mengel, Pramod K. Mistry, Petra B. Musholt, Jyoti Sharma, Bingzhi Zhang, Judith Peterschmitt (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children younger than three years: Interim results from an ongoing clinical study
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Angela Schulz, Emily de los Reyes, Nicola Specchio, Paul Gissen, Peter Slasor, Shailesh Bondade, David Jacoby (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
In utero enzyme replacement therapy in fetuses with lysosomal diseases: A phase I clinical trial
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Marisa E. Schwab, Jennifer L. Cohen, Billie Lianoglou, Renata C. Gallagher, Juan M. Gonzalez-Velez, Teresa N. Sparks, Mary E. Norton, Michael H. Gelb, Tim Wood, Priya S. Kishnani, Paul R. Harmatz, Tippi C. MacKenzie (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Phlebotomy in the treatment of hemosiderosis associated with Gaucher disease
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Ida V.D. Schwartz, Lethicia C. Ferraro, Rodrigo T. Starosta, Ana Paula P. Becker, Mário R. Álvares-da-Silva (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
