Metab-Latam, four months of experience in the email discussion group
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Ida V.D. Schwartz, Nataniel Ludwig, Karina Colonetti (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
A decade of molecular diagnosis of mucolipidosis II and III in Brazil: A pooled analysis of 32 patients
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Ida V.D. Schwartz, Nataniel Ludwig, Fernanda Sperb-Ludwig, Dévora Random, Priscila Bernardi, Liane Giugliani, Carolina Moreno, Luiz C.S. Silva (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Brazilian patients with Gaucher disease: Haplotype analysis
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Ida V.D. Schwartz, Amanda Pasqualotto, Vivian Altmann, Rafael H. Tresbach, Fernanda Sperb-Ludwig, Marina Siebert (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Ida V.D. Schwartz, Dévora N. Randon, Lethicia C. Ferraro, Carolina F.M. de Souza, Dafne D.G. Horovitz, Natan M. de Sá, Decio Brunoni (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Ida V.D. Schwartz, Thiago O. Silva, Fabiano O. Poswar, Carolina F.M. Souza, Roberto Giugliani (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Guillermo Seratti, Vikram Pansare, Tiffany Yar Pang, Emanuela Izzo, William Mackenzie, Cathleen Raggio, Klane White, Rebecca Truty, Britt Johnson, Swaroop Aradhya (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
New insights in the TRAZELGA project for the adult type 1 Gaucher disease patients treated with eliglustat follow-up
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Irene Serrano Gonzalo, Laura López de Frutos, Carlos Lahoz, Eva Mora, María Ángeles Fernández Galán, Montserrat Morales Conejo, Francisco Delgado Mateos, María Victoria Calle Gordo, Isidro Vitoria Miñana, Patricia Correcher Medina, Alicia Rodríguez Fernández, Jesús María Hernández Rivas, Javier García Frade, Daiana Ibarretxe Gerediaga, Lucía Villalón Blanco, María del Mar Tormo Díaz, María Ángeles Ruíz Guinaldo, Eva Mora Casterá, María Soledad Noya Pereira, Miguel López Dupla (Source: Molecular Gen...
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Novel regulatory function of GCN5L1 in lysosomal tubulation and biogenesis
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Allen Seylani, Kaiyuan Wu, Michael Sack (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
PR001 gene therapy increased GCase activity and improved neuronopathic Gaucher disease phenotypes
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Patty Sheehan, Laura D. Heckman, Tim Fenn, Li Chin Wong, Stuart Nelson, Swetha Garimalla, Jorge Haller, Jennifer Daily, Jason Politi, Yong Dai, Franz Hefti, Asa Abeliovich (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
PR001 gene therapy increased GCase activity and improved Gaucher disease type 1 phenotypes in mouse models
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Patty Sheehan, Laura D. Heckman, Li Chin Wong, Zhaohui Yang, Hsuan-Ni Lin, Sid Kamalakaran, Swetha Garimalla, Jason Politi, Yong Dai, Franz Hefti, Asa Abeliovich (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Modulation of the endocannabinoid receptor CB2 as a novel treatment for the lysosomal diseases
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Calogera M. Simonaro, Xingxuan He, Victor DeAngelis, Changzhi Zhu, Edward H. Schuchman (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age: Update over 2 1/2-year program in Europe and the Middle East
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Akashdeep Singh, Kimberly Gall, Emanuela Izzo, Kirsi Alakurtti, Eija H. Seppala, Lotta Koskinen, Juha Koskenvuo, Tero-Pekka Alastalo (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Molecular basis of mucopolysaccharidosis type IVA (Morquio syndrome type A): A review and classification of GALNS gene variants and reporting of new variants
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Akashdeep Singh, Alessandra Zanetti, Amelia Morrone, Moeenaldeen Al-Sayed, Ana Carolina Brusius-Facchin, Yin-Hsiu Chien, Francesca D'Avanzo, Roberto Giugliani, Emanuela Izzo, David C. Kasper, Hsiang-Yu Lin, Shuan-Pei Lin, Laura Pollard, Rodolfo Tonin, Tim Wood, Rosella Tomanin (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Ex vivo lentiviral transduction of hematopoietic stem cells in mucopolysaccharidosis type II (MPS II) mice achieves high levels of systemic iduronate-2-sulfatase (IDS) enzyme activity and normalization of glycosaminoglycans (GAGs)
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Miles C. Smith, Lalitha Belur, Olivia Erlanson, Kelly Podetz-Pedersen, Andrea Karlen, Jessica McKenzie, Jenn Detellis, Khatuna Gagnidze, Geoff Parsons, Nick Robinson, Shelby Labarre, Gina Scarglia, Saumil Shah, Hsing-Chen Tsai, R. Scott McIvor, Melissa Bonner (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Therapy for mucopolysaccharidosis type II with an intravenous blood-brain barrier-crossing enzyme (JR-141): Phase III global clinical trial design
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Sairei So, Paul Harmatz, Minako Kobayashi, Toshiaki Ikeda, Mariko Yamaoka, Tatsuyoshi Yamamoto, Teiji Tomio, Mathias Schmidt, Kazunori Tanizawa, Yuji Sato, Hiroyuki Sonoda (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
