Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies
Publication date: Available online 1 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Kimitoshi Nakamura, Satoshi Kawashima, Hirotaka Tozawa, Mariko Yamaoka, Tatsuyoshi Yamamoto, Noboru Tanaka, Ryuji Yamamoto, Torayuki Okuyama, Yoshikatsu Eto (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 2, 2020 Category: Genetics & Stem Cells Source Type: research
The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function
Publication date: Available online 1 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Megan E. Beck, Yuxun Zhang, Sivakama S. Bharathi, Beata Kosmider, Karim Bahmed, Mary K. Dahmer, Lawrence M. Nogee, Eric S. Goetzman (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 2, 2020 Category: Genetics & Stem Cells Source Type: research
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience
Publication date: Available online 29 April 2020Source: Molecular Genetics and MetabolismAuthor(s): Sechi Annalisa, Macor Daniela, Valent Serena, Da Riol Rosalia Maria, Zanatta Manuela, Spinelli Alessandro, Bianchi Katja, Bertossi Nadia, Dardis Andrea, Valent Francesca, Scarpa Maurizio (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 29, 2020 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: June 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 29, 2020 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: May 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 1Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 17, 2020 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: May 2020Source: Molecular Genetics and Metabolism, Volume 130, Issue 1Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 17, 2020 Category: Genetics & Stem Cells Source Type: research
α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype
Publication date: Available online 10 April 2020Source: Molecular Genetics and MetabolismAuthor(s): Thomas Wiesinger, Markus Schwarz, Thomas P. Mechtler, Sandra Liebmann-Reindl, Berthold Streubel, David C. Kasper (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 11, 2020 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: April 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 5, 2020 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: April 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 5, 2020 Category: Genetics & Stem Cells Source Type: research
Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease
Publication date: Available online 3 April 2020Source: Molecular Genetics and MetabolismAuthor(s): Simon C. Johnson, Ernst-Bernhard Kayser, Rebecca Bornstein, Julia Stokes, Alessandro Bitto, Kyung Yeon Park, Amanda Pan, Grace Sun, Daniel Raftery, Matt Kaeberlein, Margaret M. Sedensky, Philip G. Morgan (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 4, 2020 Category: Genetics & Stem Cells Source Type: research
Development of a neurologic severity scale for Aicardi Goutières Syndrome
Publication date: Available online 2 April 2020Source: Molecular Genetics and MetabolismAuthor(s): Laura A. Adang, Francesco Gavazzi, Abbas F. Jawad, Stacy V. Cusack, Kimberly Kopin, Kyle Peer, Constance Besnier, Micaela De Simone, Valentina De Giorgis, Simona Orcesi, Elisa Fazzi, Jessica Galli, Justine Shults, Adeline Vanderver (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 3, 2020 Category: Genetics & Stem Cells Source Type: research
Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity
Publication date: Available online 27 March 2020Source: Molecular Genetics and MetabolismAuthor(s): André Lollert, Christian Hoffmann, Michael Lache, Jochem König, Miriam Brixius-Huth, Julia B. Hennermann, Christoph Düber, Gundula Staatz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 29, 2020 Category: Genetics & Stem Cells Source Type: research
Advances in glycosaminoglycan detection
Publication date: Available online 27 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Shaukat A. Khan, Robert W. Mason, Hironori Kobayashi, Seiji Yamaguchi, Shunji Tomatsu (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 29, 2020 Category: Genetics & Stem Cells Source Type: research
Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses
Publication date: Available online 27 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Ahmed Ayuna, Karolina M. Stepien, Christian J. Hendriksz, Matthew Balerdi, Anupam Garg, Peter Woolfson (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 27, 2020 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
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
