TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation
Publication date: Available online 14 January 2021Source: Molecular Genetics and MetabolismAuthor(s): Chaya N. Murali, Claudia Soler-Alfonso, Kathleen M. Loomes, Amit A. Shah, Danielle Monteil, Carmencita D. Padilla, Fernando Scaglia, Rebecca Ganetzky (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 14, 2021 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: January 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 1Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 13, 2021 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: January 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 1Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 13, 2021 Category: Genetics & Stem Cells Source Type: research
Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains
Publication date: Available online 12 January 2021Source: Molecular Genetics and MetabolismAuthor(s): João Leandro, Aaron Bender, Tetyana Dodatko, Carmen Argmann, Chunli Yu, Sander M. Houten (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 13, 2021 Category: Genetics & Stem Cells Source Type: research
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis
Publication date: Available online 13 January 2021Source: Molecular Genetics and MetabolismAuthor(s): Susan Waisbren, Barbara K. Burton, Annette Feigenbaum, Laura L. Konczal, Joshua Lilienstein, Shawn E. McCandless, Richard Rowell, Amarilis Sanchez-Valle, Kaleigh B. Whitehall, Nicola Longo (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 13, 2021 Category: Genetics & Stem Cells Source Type: research
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC
Publication date: Available online 13 January 2021Source: Molecular Genetics and MetabolismAuthor(s): Mark Sorin, David Watkins, Brian M. Gilfix, David S. Rosenblatt (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 13, 2021 Category: Genetics & Stem Cells Source Type: research
Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis
Publication date: Available online 11 January 2021Source: Molecular Genetics and MetabolismAuthor(s): Kenneth N. Maclean, Hua Jiang, Whitney N. Phinney, Bailey M. Mclagan, James R. Roede, Sally P. Stabler (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 12, 2021 Category: Genetics & Stem Cells Source Type: research
Gaucher Disease Type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
Publication date: Available online 8 January 2021Source: Molecular Genetics and MetabolismAuthor(s): Neal J. Weinreb, José Simon Camelo, Joel Charrow, Monica R. McClain, Pramod Mistry, Nadia Belmatoug, for the International Collaborative Gaucher Group (ICCG) Gaucher Registry (NCT00358943) investigators (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 9, 2021 Category: Genetics & Stem Cells Source Type: research
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes
Publication date: Available online 9 January 2021Source: Molecular Genetics and MetabolismAuthor(s): Emily Daykin, Emory Ryan, Ellen Sidransky (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 9, 2021 Category: Genetics & Stem Cells Source Type: research
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
Publication date: Available online 23 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Nicola Longo, George A. Diaz, Uta Lichter-Konecki, Andreas Schulze, Michal Inbar-Feigenberg, Robert L. Conway, Allison A. Bannick, Shawn E. McCandless, Roberto Zori, Bryan Hainline, Nicholas Ah Mew, Colleen Canavan, Thomas Vescio, Teresa Kok, Marty H. Porter, Susan A. Berry (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 31, 2020 Category: Genetics & Stem Cells Source Type: research
Gaucher disease: Basic and translational science needs for more complete therapy and management
Publication date: Available online 29 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Gregory A. Grabowski, Armand H.M. Antommaria, Edwin H. Kolodny, Pramod K. Mistry (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 30, 2020 Category: Genetics & Stem Cells Source Type: research
The evolution of our understanding of the conceptualization and genetics of cerebral palsy: Implications for genetic testing
Publication date: Available online 29 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Michael Shevell (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 30, 2020 Category: Genetics & Stem Cells Source Type: research
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease
Publication date: Available online 25 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Carlos R. Ferreira, Nenad Blau (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 26, 2020 Category: Genetics & Stem Cells Source Type: research
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
Publication date: Available online 23 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Nicola Longo, George A. Diaz, Uta Lichter-Konecki, Andreas Schulze, Michal Inbar-Feigenberg, Robert L. Conway, Allison A. Bannick, Shawn E. McCandless, Roberto Zori, Bryan Hainline, Nicholas Ah. Mew, Colleen Canavan, Thomas Vescio, Teresa Kok, Marty H. Porter, Susan A. Berry (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 23, 2020 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: December 2020Source: Molecular Genetics and Metabolism, Volume 131, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 16, 2020 Category: Genetics & Stem Cells Source Type: research
