Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria
Publication date: Available online 2 September 2020Source: Molecular Genetics and MetabolismAuthor(s): Helene Lazareth, Neila Talbi, Nassim Kamar, Charlène Levi, Bruno Moulin, Sophie Caillard, Luc Frimat, Jonathan Chemouny, Valérie Chatelet, Clément Vachey, Renaud Snanoudj, Thibaud Lefebvre, Alexandre Karras, Laurent Gouya, Caroline Schmitt, Hervé Puy, Nicolas Pallet (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 4, 2020 Category: Genetics & Stem Cells Source Type: research
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints
Publication date: Available online 31 August 2020Source: Molecular Genetics and MetabolismAuthor(s): Johanna H. van der Lee, Jonathan Morton, Heather R. Adams, Lorne Clarke, Julie B. Eisengart, Maria L. Escolar, Roberto Giugliani, Paul Harmatz, Melissa Hogan, Shauna Kearney, Joseph Muenzer, Nicole Muschol, Stewart Rust, Benjamin R. Saville, Margaret Semrud-Clikeman, Raymond Wang, Elsa Shapiro (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - September 1, 2020 Category: Genetics & Stem Cells Source Type: research
Detailed epitope mapping of neutralizing anti-drug antibodies against recombinant α-galactosidase A in patients with Fabry disease
Publication date: Available online 28 August 2020Source: Molecular Genetics and MetabolismAuthor(s): David Scharnetzki, Franciska Stappers, Malte Lenders, Eva Brand (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - August 29, 2020 Category: Genetics & Stem Cells Source Type: research
Corrigendum to “The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII” [Mol Genet Metab 2020 Mar;129(3):219–227]
Publication date: Available online 23 August 2020Source: Molecular Genetics and MetabolismAuthor(s): Raymond Y. Wang, José Francisco da Silva Franco, Jaime López-Valdez, Esmeralda Martins, Vernon Reid Sutton, Chester B. Whitley, Lin Zhang, Tricia Cimms, Deborah Marsden, Agnieszka Jurecka, Paul Harmatz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - August 23, 2020 Category: Genetics & Stem Cells Source Type: research
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study
Publication date: Available online 15 August 2020Source: Molecular Genetics and MetabolismAuthor(s): Ulla Feldt-Rasmussen, Derralynn Hughes, Gere Sunder-Plassmann, Suma Shankar, Khan Nedd, Iacopo Olivotto, Damara Ortiz, Toya Ohashi, Takashi Hamazaki, Nina Skuban, Julie Yu, Jay A. Barth, Kathleen Nicholls (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - August 17, 2020 Category: Genetics & Stem Cells Source Type: research
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Publication date: Available online 5 August 2020Source: Molecular Genetics and MetabolismAuthor(s): Brian J. Shayota, Taraka R. Donti, Jing Xiao, Charul Gijavanekar, Adam D. Kennedy, Leroy Hubert, Lance Rodan, Christina Vanderpluym, Catherine Nowak, Hans T. Bjornsson, Rebecca Ganetzky, Gerard T. Berry, Kirk L. Pappan, V. Reid Sutton, Qin Sun, Sarah H. Elsea (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - August 13, 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: Available online 7 August 2020Source: Molecular Genetics and MetabolismAuthor(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 - August 13, 2020 Category: Genetics & Stem Cells Source Type: research
1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome
Publication date: Available online 12 August 2020Source: Molecular Genetics and MetabolismAuthor(s): Dana S'aulis, Emily A. Khoury, Morgan Zabel, William B. Rizzo (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - August 13, 2020 Category: Genetics & Stem Cells Source Type: research
Unraveling the mystery of Gaucher bone density pathophysiology
Publication date: Available online 1 August 2020Source: Molecular Genetics and MetabolismAuthor(s): P.A. Rozenfeld, A.N. Crivaro, M. Ormazabal, J.M. Mucci, C. Bondar, M.V. Delpino (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - August 2, 2020 Category: Genetics & Stem Cells Source Type: research
The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies
Publication date: Available online 30 July 2020Source: Molecular Genetics and MetabolismAuthor(s): João Leandro, Sander M. Houten (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 30, 2020 Category: Genetics & Stem Cells Source Type: research
Impact of COVID-19 pandemic on patients with Fabry disease: An Italian experience
Publication date: Available online 28 July 2020Source: Molecular Genetics and MetabolismAuthor(s): Eleonora Riccio, Maurizio Pieroni, Giuseppe Limoneglli, Antonio Pisani (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 29, 2020 Category: Genetics & Stem Cells Source Type: research
Analysis of exome-sequenced UK Biobank subjects implicates genes affecting risk of hyperlipidaemia
Publication date: Available online 29 July 2020Source: Molecular Genetics and MetabolismAuthor(s): David Curtis (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 29, 2020 Category: Genetics & Stem Cells Source Type: research
Corrigendum to “Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis” [Molecular Genetics Metabolism 130 (2020) 274-282]
Publication date: Available online 27 July 2020Source: Molecular Genetics and MetabolismAuthor(s): A. Crivaro, C. Bondar, J.M. Mucci, M. Ormazabal, R.A. Feldman, M.V. Delpino, P.A. Rozenfeld (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 28, 2020 Category: Genetics & Stem Cells Source Type: research
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses
Publication date: Available online 25 July 2020Source: Molecular Genetics and MetabolismAuthor(s): Ainslie Derrick-Roberts, Xenia Kaidonis, Matilda R. Jackson, Wan Chin Liaw, XiaoDan Ding, Chun Ong, Enzo Ranieri, Peter Sharp, Janice Fletcher, Sharon Byers (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 25, 2020 Category: Genetics & Stem Cells Source Type: research
Enzyme replacement therapy for the treatment of Hunter disease: A systematic review with narrative synthesis and META-analysis
Publication date: Available online 21 July 2020Source: Molecular Genetics and MetabolismAuthor(s): Philip Erick Wikman-Jorgensen, Ana López Amorós, Jorge Peris García, Pedro Jesús Esteve Atienzar, Ruth Cañizares Navarro, Maria Luisa Asensio Tomás, Jose Miguel Seguí Ripoll, David Bonet, María José Esteban-Giner, Jaqueline Robert, Vicente Giner-Galvañ (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 22, 2020 Category: Genetics & Stem Cells Source Type: research
