Two siblings with attenuated MPS II form: Long term enzyme replacement therapy
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Nato Vashakmadze, Leyla Namazova-Baranova, Natalia Zhurkova, Olga Gordeeva, Nina Fedorova, Georgii Karkashadze, Elena Komarova, Kirill Savostianov, Kirill Savostianov, Aleksandr Pushkov (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Mild forms of mucopolysaccharidosis type I (MPSI)
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Nato Vashakmadze, Natalya Zhurkova, Ekaterina Zakharova, Marina Babaikina, Anastasia Rykunova, Leyla Namazova-Baranova (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Oregon's experience with newborn screening for Fabry disease, Gaucher disease, Pompe disease and mucopolysaccharidosis type I
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Sarah Viall, Anna Dennis, Sara Denniston, Amy Yang (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Neuronal ceroid lipofuscinosis assessment utilizing virtual visits during a pandemic
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Amy Vierhile, Grace A. Zimmerman, Margaux Masten, Camille Corre, Heather R. Adams, Jonathan W. Mink, Erika F. Augustine (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Neuro-networks investigating the neurological impairment of mucopolysaccharidoses using a system biology approach
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Gerda Cristal Villalba Silva, Ursula Matte (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
PREDIGA project: Preliminary results of the Spanish multicenter epidemiological and medical education project in acid sphingomyelinase deficiency disease (ASMD) and Gaucher disease (GD)
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Jesus Villarrubia, Enrique Calderon, Miguel Angel Torralba, Isidro Vitoria, Marta Morado, Victor Quintero, Monserrat Morales, Juan Luis Carrillo-Linares, Gema Muñoz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
First in-human intracisternal dosing of RGX-111 (adeno-associated virus 9/human α-L-iduronidase) for a 20-month-old child with mucopolysaccharidosis type I (MPS I): 1 year follow-up
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Raymond Y. Wang, Tammam Beydoun, Nina Movsesyan, Shih-Hsin Kan, Mery Taylor, Winnie Stockton, Igor Nestrasil, Bryan Pukenas, Paulo Falabella, Yoonjin Cho, Marie-Laure Névoret (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Adults with chronic acid sphingomyelinase deficiency show significant visceral, pulmonary, and hematologic improvements after enzyme replacement therapy with olipudase-alfa: 1-year results of the ASCEND placebo-controlled trial
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Melissa Wasserstein, Laila Arash-Kaps, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto B. Guelbert, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Oliver Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Yixin Chen, Patricia A. Fraser, Beth L. Thurberg, Atef Zaher (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Canadian Fabry disease registry study group: Report on the A143P Nova Scotia genotype
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Michael L. West, Daniel G. Bichet, Mark R. Iwanochko, Sandra Sirrs, Aneal Khan, Christiane Auray-Blais, Kaye M. LeMoine (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Lyso Gb3 and Gb3 analogues in Fabry disease patients with A143P genotype: A cross-sectional analysis by the CFDR study group
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Michael L. West, Daniel G. Bichet, Mark R. Iwanochko, Sandra Sirrs, Aneal Khan, Christiane Auray-Blais, Kaye M. LeMoine (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
The chloroquine-induced phenocopy of Fabry disease keratopathy
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Chester B. Whitley, Robert J. Desnick (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Newborn screening for metachromatic leukodystrophy in Northern Germany- a prospective study
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Thomas Wiesinger, Markus Schwarz, Petra Oliva, Thomas P. Mechtler, Berthold Streubel, Charlotte Chanson, Mirko M. Essing, Simona Murko, Annette Bley, Rene Santer, David C. Kasper (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Informing patients with rare diseases about COVID-19: Creation of the “Beto and the Coronavirus” booklet
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Matheus V. Wilke, Carolina Fischinger Moura de Souza, Roberto Giugliani, Ida V. Schwartz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Lyso-Gb1 levels in sisters with Gaucher disease type 1: A case report
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Matheus V. Wilke, Francyne Kubaski, Livia Paskulin, Roberto Giugliani, Ida V.D. Schwartz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Development of a novel gene therapy for Fabry disease: Engineered alpha-galactosidase A transgene for improved stability
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Tobias Willer, Juliette Hordeaux, Pai-Chi Tsai, Daniel Ellsworth, Su Xu, Helen Eisenach, Jinsong Shen, Jean-Pierre Louboutin, Peter Bell, Chunjuan Song, Quyen Q. Hoang, Russell Gotschall, Jill Weimer, James M. Wilson, Hung Do (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
