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

Table of Contents
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

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
Publication date: Available online 15 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Luca Fierro, Nora Nesheiwat, Hetanshi Naik, Praveena Narayanan, Pramod K. Mistry, Manisha Balwani (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 16, 2020 Category: Genetics & Stem Cells Source Type: research

Cover 2 / Ed. Board
Publication date: September–October 2020Source: Molecular Genetics and Metabolism, Volume 131, Issues 1–2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 15, 2020 Category: Genetics & Stem Cells Source Type: research

Table of Contents
Publication date: September–October 2020Source: Molecular Genetics and Metabolism, Volume 131, Issues 1–2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 15, 2020 Category: Genetics & Stem Cells Source Type: research

The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization
Publication date: September–October 2020Source: Molecular Genetics and Metabolism, Volume 131, Issues 1–2Author(s): Mirco Dindo, Giorgia Mandrile, Carolina Conter, Rosa Montone, Daniela Giachino, Alessandra Pelle, Claudio Costantini, Barbara Cellini (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 15, 2020 Category: Genetics & Stem Cells Source Type: research

Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism
Publication date: Available online 15 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Trevor O. Kirby, Javier Ochoa-Reparaz, Jean-Baptiste Roullet, K. Michael Gibson (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 15, 2020 Category: Genetics & Stem Cells Source Type: research

Table of Contents
Publication date: November 2020Source: Molecular Genetics and Metabolism, Volume 131, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 10, 2020 Category: Genetics & Stem Cells Source Type: research

Cover 2 / Ed. Board
Publication date: November 2020Source: Molecular Genetics and Metabolism, Volume 131, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 10, 2020 Category: Genetics & Stem Cells Source Type: research

Inter- and intra-tract analysis of white matter abnormalities in individuals with early-treated phenylketonuria (PKU)
Publication date: Available online 5 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Hayley E. Clocksin, Zoë W. Hawks, Desirée A. White, Shawn E. Christ (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 6, 2020 Category: Genetics & Stem Cells Source Type: research

White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis
Publication date: Available online 3 December 2020Source: Molecular Genetics and MetabolismAuthor(s): Jitka Majovska, Igor Nestrasil, Amy Paulson, David Nascene, Katarina Jurickova, Anna Hlavata, Troy Lund, Paul J. Orchard, Manuela Vaneckova, Jiri Zeman, Martin Magner, Petr Dusek (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - December 4, 2020 Category: Genetics & Stem Cells Source Type: research

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia
Publication date: Available online 28 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Pierre-Hadrien Becker, Zeynep Demir, Yael Mozer Glassberg, Caroline Sevin, Dalila Habes, Apolline Imbard, Charlotte Mussini, Michal Rozenfeld Bar Lev, Anne Davit-Spraul, Jean-François Benoist, Patrice Thérond, Abdelhamid Slama, Emmanuel Jacquemin, Emmanuel Gonzales, Pauline Gaignard (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 28, 2020 Category: Genetics & Stem Cells Source Type: research

Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype
Publication date: Available online 7 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Alejandro Ferrer, Rodrigo Tzovenos Starosta, Wasantha Ranatunga, Dani Ungar, Tamas Kozicz, Eric Klee, Laura M. Rust, Myra Wick, Eva Morava (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 27, 2020 Category: Genetics & Stem Cells Source Type: research

A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype
Publication date: Available online 24 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Kimberly A. Kripps, Marisa W. Friedrich, Ting Chen, Austin A. Larson, David M. Mirsky, Yue Wang, Kurenai Tanji, Kaz M. Knight, Lee-Jun Wong, Johan L.K. Van Hove (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 24, 2020 Category: Genetics & Stem Cells Source Type: research

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1
Publication date: Available online 18 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Rohini Sidhu, Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Ngoc Dang Do, Forbes D. Porter, Elizabeth Berry-Kravis, Janine Reunert, Thorsten Marquardt, Roberto Giugliani, Charles M. Lourenço, Raymond Y. Wang, Nina Movsesyan, Ellen Plummer, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 18, 2020 Category: Genetics & Stem Cells Source Type: research

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth
Publication date: Available online 18 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Francesca Manzoni, Elisabetta Salvatici, Alberto Burlina, Ashley Andrews, Marzia Pasquali, Nicola Longo (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 18, 2020 Category: Genetics & Stem Cells Source Type: research

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome
Publication date: Available online 6 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Mendy M. Welsink-Karssies, Anouk Schrantee, Matthan W.A. Caan, Carla E.M. Hollak, Mirian C.H. Janssen, Esmee Oussoren, Maaike C. de Vries, Stefan D. Roosendaal, Marc Engelen, Annet M. Bosch (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 7, 2020 Category: Genetics & Stem Cells Source Type: research

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders
Publication date: Available online 7 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Roland Posset, Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea L. Gropman, Sandesh C.S. Nagamani, Svenja Scharre, Joris Probst, Magdalena E. Walter, Georg F. Hoffmann, Sven F. Garbade, Matthias Zielonka, on behalf of the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 7, 2020 Category: Genetics & Stem Cells Source Type: research

Fetal glycosylation defect due to ALG3 and GOG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype
Publication date: Available online 7 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Alejandro Ferrer, Rodrigo Tzovenos Starosta, Wasantha Ranatunga, Dani Ungar, Tamas Kozicz, Eric Klee, Laura M. Rust, Myra Wick, Eva Morava (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 7, 2020 Category: Genetics & Stem Cells Source Type: research

The variability conundrum in neurometabolic degenerative diseases
Publication date: Available online 6 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Clara D.M. van Karnebeek, Phillip A. Richmond, Frans van der Kloet, Wyeth Wasserman, Marc Engelen, Stephan Kemp (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 6, 2020 Category: Genetics & Stem Cells Source Type: research

Corrigendum to “A systematic cross-sectional survey of multiple sulfatase deficiency” [Mol Genet Metab. 2020 Aug;130(4):283–288]
Publication date: Available online 2 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Gerarda Cappuccio, Marianna Alagia, Nicola Brunetti-Pierri (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 3, 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 28, 2020 Category: Genetics & Stem Cells Source Type: research

5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin
Publication date: Available online 26 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Arian Pourmehdi Lahiji, Karl E. Anderson, Amy Chan, Amy Simon, Robert J. Desnick, V.M. Sadagopa Ramanujam (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 27, 2020 Category: Genetics & Stem Cells Source Type: research

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review
Publication date: Available online 20 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Chelsie N. Poffenberger, Sara Inati, Nahid Tayebi, Barbara Stubblefield, Emory Ryan, Raphael Schiffmann, Ellen Sidransky, Grisel Lopez (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 20, 2020 Category: Genetics & Stem Cells Source Type: research

Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation
Publication date: Available online 17 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Silvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, Anil K. Madugundu, Mayank Saraswat, Angie Lichty, Sunnie Y.W. Wong, Stephen McGee, Katharine Kubiak, Anna Ligezka, Wasantha Ranatunga, Yuebo Zhang, Tim Wood, Michael J. Friez, Katie Clarkson, Akhilesh Pandey, Julie R. Jones, Eva Morava (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 18, 2020 Category: Genetics & Stem Cells Source Type: research

Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1
Publication date: Available online 18 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Antony Cougnoux, Julia C. Yerger, Mason Fellmeth, Jenny Serra-Vinardell, Christopher A. Wassif, Niamh X. Cawley, Forbes D. Porter (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 18, 2020 Category: Genetics & Stem Cells Source Type: research

Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation
Publication date: Available online 16 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Adrián González-Quintana, María J. Trujillo-Tiebas, Ana L. Fernández-Perrone, Alberto Blázquez, Alejandro Lucia, María Morán, Cristina Ugalde, Joaquín Arenas, Carmen Ayuso, Miguel A. Martín (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 17, 2020 Category: Genetics & Stem Cells Source Type: research

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution
Publication date: Available online 13 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Frederic Tort, Estibaliz Barredo, Ranjani Parthasarathy, Olatz Ugarteburu, Xenia Ferrer-Cortès, Judit García-Villoria, Laura Gort, Adrián González-Quintana, Miguel A. Martín, Erika Fernández-Vizarra, Massimo Zeviani, Antonia Ribes (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 14, 2020 Category: Genetics & Stem Cells Source Type: research

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome
Publication date: Available online 14 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Thomas Johnstone, Jennifer Wang, Daron Ross, Nicholas Balanda, Yan Huang, Rena Godfrey, Catherine Groden, Brandon R. Barton, William Gahl, Camilo Toro, May Christine V. Malicdan (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 14, 2020 Category: Genetics & Stem Cells Source Type: research

Proteomics for the study of new biomarkers in Fabry disease: State of the art
Publication date: Available online 14 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Federica Rossi, Vincenzo L'Imperio, Hans-Peter Marti, Einar Svarstad, Andrew Smith, Maddalena Maria Bolognesi, Fulvio Magni, Fabio Pagni, Federico Pieruzzi (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 14, 2020 Category: Genetics & Stem Cells Source Type: research

Benign or not benign? Deep phenotyping of liver glycogen storage disease IX
Publication date: Available online 10 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Samuela A. Fernandes, Gabrielle E. Cooper, Rebecca Anne Gibson, Priya S. Kishnani (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 11, 2020 Category: Genetics & Stem Cells Source Type: research

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