CPS1: Looking at an ancient enzyme in a modern light
Publication date: Available online 10 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Matthew Nitzahn, Gerald S. Lipshutz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 10, 2020 Category: Genetics & Stem Cells Source Type: research
Clinical trials in mitochondrial disorders, an update
Publication date: Available online 6 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Mohammed Almannai, Ayman W. El-Hattab, May Ali, Claudia Soler-Alfonso, Fernando Scaglia (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 8, 2020 Category: Genetics & Stem Cells Source Type: research
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach
Publication date: Available online 6 October 2020Source: Molecular Genetics and MetabolismAuthor(s): S.C. Van Calcar, M. Sowa, F. Rohr, J. Beazer, T. Setlock, T.U. Weihe, S. Pendyal, L.S. Wallace, J.G. Hansen, A. Stembridge, P. Splett, R.H. Singh (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 6, 2020 Category: Genetics & Stem Cells Source Type: research
The genetic basis of isolated mitochondrial complex II deficiency
Publication date: Available online 3 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Millie Fullerton, Robert McFarland, Robert W. Taylor, Charlotte L. Alston (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 4, 2020 Category: Genetics & Stem Cells Source Type: research
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia
Publication date: Available online 3 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Olivia Wenger, Miraides Brown, Brandon Smith, Devyani Chowdhury, Andrew H. Crosby, Emma L. Baple, Mark Yoder, William Laxen, Silvia Tortorelli, Kevin A. Strauss (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 4, 2020 Category: Genetics & Stem Cells Source Type: research
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades
Publication date: Available online 4 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Kevin A. Strauss, Katie B. Williams, Vincent J. Carson, Laura Poskitt, Lauren E. Bowser, Millie Young, Donna L. Robinson, Christine Hendrickson, Keturah Beiler, Cora M. Taylor, Barbara Haas-Givler, Jennifer Hailey, Stephanie Chopko, Erik G. Puffenberger, Karlla W. Brigatti, Freeman Miller, D. Holmes Morton (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 4, 2020 Category: Genetics & Stem Cells Source Type: research
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency
Publication date: Available online 30 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Daelyn Y. Richards, Shelley R. Winn, Sandra Dudley, Lev Fedorov, Nicole Rimann, Beat Thöny, Cary O. Harding (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 30, 2020 Category: Genetics & Stem Cells Source Type: research
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective
Publication date: Available online 25 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Mohamed A. Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès-Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah Catharina Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock-Hock Ngu, M. Mar Rovira-Remisa, Jörn Oliver Sass, Jolanta Sykut-Cegielska, Albina Tummolo, Lambertus P. van den Heuvel (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 26, 2020 Category: Genetics & Stem Cells Source Type: research
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease
Publication date: Available online 18 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Marina Kerr, Stacey Hume, Fadya Omar, Desmond Koo, Heather Barnes, Maida Khan, Suhaib Aman, Xing-Chang Wei, Hanen Alfuhaid, Roman McDonald, Liam McDonald, Christopher Newell, Rebecca Sparkes, Dustin Hittel, Aneal Khan (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 18, 2020 Category: Genetics & Stem Cells Source Type: research
How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations
Publication date: Available online 16 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Jeremy N. Ruskin, Catherine Ortemann-Renon, Jerome Msihid, Leorah Ross, Ana Cristina Puga, M. Judith Peterschmitt, Gerald F. Cox, Pierre Maison-Blanche (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 17, 2020 Category: Genetics & Stem Cells Source Type: research
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Publication date: Available online 17 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Federica Conte, Eva Morava, Nurulamin Abu Bakar, Saskia B. Wortmann, Anne Jonge Poerink, Stephanie Grunewald, Ellen Crushell, Lihadh Al-Gazali, Maaike C. de Vries, Lars Mørkrid, Jozef Hertecant, Katja S. Brocke Holmefjord, David Kronn, Annette Feigenbaum, Ralph Fingerhut, Sunnie Y. Wong, Monique van Scherpenzeel, Nicol C. Voermans, Dirk J. Lefeber (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 17, 2020 Category: Genetics & Stem Cells Source Type: research
Mitochondrial dysfunction caused by novel ATAD3A mutations
Publication date: Available online 9 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Nathalie Dorison, Pauline Gaignard, Aurélien Bayot, Antoinette Gelot, Pierre Hadrien Becker, Salma Fourati, Elise Lebigot, Perrine Charles, Timothy Wai, Patrice Therond, Abdelhamid Slama (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 11, 2020 Category: Genetics & Stem Cells Source Type: research
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD
Publication date: Available online 6 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Gabriela Elizondo, Dietrich Matern, Jerry Vockley, Cary O. Harding, Melanie B. Gillingham (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 7, 2020 Category: Genetics & Stem Cells Source Type: research
A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism
Publication date: Available online 4 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Jana Marie Schwarz, Leonardo Pedrazza, Werner Stenzel, Jose Luis Rosa, Markus Schuelke, Rachel Straussberg (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 5, 2020 Category: Genetics & Stem Cells Source Type: research
Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis
Publication date: Available online 3 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Nehna Abdul Majeed, Esperanza Font-Montgomery, Linda Lukose, Joy Bryant, Peter Veppumthara, Peter L. Choyke, Ismail B. Turkbey, Theo Heller, William A. Gahl, Meral Gunay-Aygun (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 4, 2020 Category: Genetics & Stem Cells Source Type: research
