Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued
Publication date: Available online 6 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Juan Politei (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 6, 2020 Category: Genetics & Stem Cells Source Type: research
Laboratory monitoring of patients with hereditary tyrosinemia type I
Publication date: Available online 6 June 2020Source: Molecular Genetics and MetabolismAuthor(s): Matthew J. Schultz, Brian C. Netzel, Rani H. Singh, Gisele B. Pino, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Piero Rinaldo, Silvia Tortorelli, Wendy E. Smith, Dietrich Matern (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 6, 2020 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: July 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 6, 2020 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: July 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 6, 2020 Category: Genetics & Stem Cells Source Type: research
A pandemic will not stop metabolic innovation
Publication date: Available online 22 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Erin MacLeod, Danielle Starin, Nicholas Ah Mew, Debra S. Regier (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 23, 2020 Category: Genetics & Stem Cells Source Type: research
Aortic distensibility in alkaptonuria
Publication date: Available online 18 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Rashmi Thimmapuram, W. Patricia Bandettini, Sujata M. Shanbhag, Jeannie Yu, Kevin J. O'Brien, William A. Gahl, Wendy J. Introne, Marcus Y. Chen (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 19, 2020 Category: Genetics & Stem Cells Source Type: research
Metabolomics in acute myeloid leukemia
Publication date: Available online 18 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Anna V. Wojcicki, Maya M. Kasowski, Kathleen M. Sakamoto, Norman Lacayo (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 19, 2020 Category: Genetics & Stem Cells Source Type: research
The biochemical village: How it can flourish and thrive
Publication date: Available online 15 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Debra Regier (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 16, 2020 Category: Genetics & Stem Cells Source Type: research
Update from the SIMD President
Publication date: Available online 14 May 2020Source: Molecular Genetics and MetabolismAuthor(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 15, 2020 Category: Genetics & Stem Cells Source Type: research
Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model
Publication date: Available online 11 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Ludovica Santi, Giada De Ponti, Giorgia Dina, Alice Pievani, Alessandro Corsi, Mara Riminucci, Shaukat Khan, Kazuki Sawamoto, Laura Antolini, Silvia Gregori, Andrea Annoni, Andrea Biondi, Angelo Quattrini, Shunji Tomatsu, Marta Serafini (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 12, 2020 Category: Genetics & Stem Cells Source Type: research
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges
Publication date: Available online 11 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Pramod Mistry, Manisha Balwani, Deborah Barbouth, T. Andrew Burrow, Edward I. Ginns, Ozlem Goker-Alpan, Gregory A. Grabowski, Reena V. Kartha, Priya S. Kishnani, Heather Lau, Chung U. Lee, Grisel Lopez, Gustavo Maegawa, Seymour Packman, Carlos Prada, Barry Rosenbloom, Tamanna Roshan Lal, Rapheal Schiffmann, Neal Weinreb, Ellen Sidransky (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 11, 2020 Category: Genetics & Stem Cells Source Type: research
Biochemical and anaplerotic applications of In Vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes
Publication date: Available online 11 May 2020Source: Molecular Genetics and MetabolismAuthor(s): M. Sol Collado, Allison J. Armstrong, Matthew Olson, Stephen A. Hoang, Nathan Day, Marshall Summar, Kimberly A. Chapman, John Reardon, Robert A. Figler, Brian R. Wamhoff (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 11, 2020 Category: Genetics & Stem Cells Source Type: research
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency
Publication date: Available online 5 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Gawa Bidla, David Watkins, Céline Chéry, D. Sean Froese, Courtney Ells, Matin Karachian, Avi Saskin, Karen E. Christensen, Brian M. Gilfix, Jean-Louis Guéant, David S. Rosenblatt (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 6, 2020 Category: Genetics & Stem Cells Source Type: research
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
Publication date: Available online 3 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Ashlee R. Stiles, Haoyue Zhang, Jian Dai, Patricia McCaw, James Beasley, Catherine Rehder, Dwight D. Koeberl, Marie McDonald, Deeksha S. Bali, Sarah P. Young (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 5, 2020 Category: Genetics & Stem Cells Source Type: research
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency
Publication date: Available online 4 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Ana Pop, Desirée E.C. Smith, Trevor Kirby, Dana Walters, K. Michael Gibson, Soufiane Mahmoudi, Silvy J.M. van Dooren, Warsha A. Kanhai, Matilde R. Fernandez-Ojeda, Eric J.M. Wever, Janet Koster, Hans R. Waterham, Bram Grob, Birthe Roos, Mirjam C. Wamelink, Justin Chen, Senthil Natesan, Gajja S. Salomons (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 5, 2020 Category: Genetics & Stem Cells Source Type: research
