MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses studies
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Luis Dias Ferreira Soares, Gerda Cristal Villalba Silva, Ursula da Silveira Matte (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Dual therapy with migalastat and agalsidase-beta in a patient with Fabry disease with progressing hypertrophic cardiomyopathy
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Chanan Stauffer, Manisha Balwani, Robert J. Desnick, Luca Fierro, Jaya Ganesh (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
A survey of statistical study design and analysis methods for rare disease development programs
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Miganush Stepanians (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Long-term outcomes in adult patients affected with fucosidosis: Psychosis as a new complication
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Karolina M. Stepien, Cliff Chen, Richard Hackett, Andrew Oldham, Ahmed Ayuna, Simon A. Jones, Heather J. Church, Karen L. Tylee, Christian J. Hendriksz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Cardiac surgical interventions in MPS I and VI patients in adulthood
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Karolina M. Stepien, Simon A. Jones, Robert Wynn, Christian J. Hendriksz, Ana Jovanovic, Reena Sharma, Petra Jenkins, Andreas Hoschtitzky, Aidan Bolger, Paul Clift, Chaitanya Gadepalli, Peter Woolfson (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Prevalence of hearing problems in adult mucopolysaccharidosis
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Karolina M. Stepien, Neil Summerfield, Chaitanya Gadepalli (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
RANSIP newborn screening program: Working to bring early diagnostics, inclusion, and therapeutic access to metachromatic leukodystrophy patients
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Dean Suhr, Teryn R. Suhr, Tara Mathiesen, Bradford L. Therrell (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Novel mechanism of SRT and ERT on recovering the function of mitochondrial and autophagy-lysosomal pathway in Gaucher disease neuronal cell model
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Ying Sun, Yanyan Peng, Benjamin Liou, Venette Fannin (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Genotype-phenotype correlation of MPS II: A meta-analysis
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Xinze Tan, Li Ou (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Non-clinical evaluation of a blood-brain barrier-penetrable N-sulfoglucosamine sulfohydrolase in a mouse model of mucopolysaccharidosis type IIIA
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Satowa Tanaka, Sachiho Kida, Yuri Koshimura, Shinji Kakimoto, Atsushi Imakiire, Jun Ito, Kazuki Miyauchi, Hideto Morimoto, Kohtaro Minami, Tohru Hirato, Hiroyuki Sonoda (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
AVR-RD-01, an investigational lentiviral gene therapy for Fabry disease: Overview of clinical data from phase 1 and phase 2 studies
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Mark Thomas, Kathleen Nicholls, Benedict Carnley, Mirjam Trame, Chris Mason, Fatemeh Tavakkoli, Greg Keenan (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
SIG-018: Novel encapsulated non-viral cell-based therapy for MPS II
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Drew Tietz, Marissa Donovan, Erika Pearson, Brian Fluharty, Devyn Smith, Elina Makino (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Production and characterization of a recombinant alpha-N-acetyl glucosaminidase enzyme in the Pichia pastoris yeast
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Heidy Johana Triana, Oscar Fernando Sánchez, Carlos Javier Alméciga-Diaz, Angela Johana Espejo-Mojica (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Development of a Fabry disease screening tool for chronic pain patients - step 1: Categorization based on phenotypic risk profiles
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Michael A. Ueberall, Birgit Gloeckner, Markus Peceny, Johannes Horlemann (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Long-term hematopoietic stem cell gene therapy corrects neuromuscular manifestations in preclinical study of Pompe mice
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Niek P. van Til, Yildirim Dogan, Cecilia Barese, Zeenath Unnisa, Swaroopa Guda, Rena Schindler, John Yoon, Mary Jacobs, Abhishek Chiyyeadu, Daniella Pizzurro, Bianling Liu, Maurine Braun, Christine Oborski, Axel Schambach, Claudia Harper, Richard Pfeifer, Chris Mason (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
