Table of Contents
Publication date: March 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 21, 2020 Category: Genetics & Stem Cells Source Type: research
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders
Publication date: Available online 19 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Clément Pontoizeau, Célina Roda, Jean-Baptiste Arnoux, Patricia Vignolo-Diard, Anais Brassier, Florence Habarou, Valérie Barbier, Coraline Grisel, Marie-Thérèse Abi-Warde, Nathalie Boddaert, Alice Kuster, Aude Servais, Anna Kaminska, Carole Hennequin, Laurent Dupic, Fabrice Lesage, Guy Touati, Vassili Valayannopoulos, Bernadette Chadefaux-Vekemans, Mehdi Oualha (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 21, 2020 Category: Genetics & Stem Cells Source Type: research
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition
Publication date: Available online 19 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Friederike Häuser, Seyfullah Gökce, Gesa Werner, Sven Danckwardt, Stefanie Sollfrank, Carolin Neukirch, Vera Beyer, Julia B. Hennermann, Karl J. Lackner, Eugen Mengel, Heidi Rossmann (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 19, 2020 Category: Genetics & Stem Cells Source Type: research
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Publication date: Available online 6 March 2020Source: Molecular Genetics and MetabolismAuthor(s): KimberlyA. Kripps, Warapan Nakayuenyongsuk, Brian J. Shayota, William Berquist, Natalia Gomez-Ospina, Carlos O. Esquivel, Waldo Concepcion, Jacinda B. Sampson, David J. Cristin, Whitney E. Jackson, Samuel Gilliland, Elizabeth A. Pomfret, Michael L. Kueht, Rowland W. Pettit, Youmna A. Sherif, Lisa T. Emrick, Sarah H. Elsea, Ryan Himes, Michio Hirano, Johan L.K. Van Hove (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 7, 2020 Category: Genetics & Stem Cells Source Type: research
Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII
Publication date: Available online 6 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Jaclyn Cadaoas, Gabrielle Boyle, Steven Jungles, Sean Cullen, Michel Vellard, Jeffrey H. Grubb, Agnieszka Jurecka, William Sly, Emil Kakkis (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 7, 2020 Category: Genetics & Stem Cells Source Type: research
