Exploration of the role of whole exome sequencing variants in GBA1-associated Parkinson disease
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Elizabeth Geena Woo, Frank Donovan, Barbara Stubblefield, Settara Chandrasekharappa, Grisel Lopez, Ellen Sidransky, Nahid Tayebi (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Hearing loss in Fabry disease: A 16 year follow-up study of the Danish nationwide cohort
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Puriya Daniel Würtz Yazdanfard, Grigorios Effraimidis, Christoffer Valdorff Madsen, Lars Holme Nielsen, Åse Krogh Rasmussen, Jørgen Holm Petersen, Søren Schwartz Sørensen, Lars Køber, Ulla Feldt-Rasmussen (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Assessment of cognitive development in patients with neuronopathic mucopolysaccharidosis type II treated with intrathecal idursulfase-IT using Projected Retained Ability Score (PRAS): A post hoc analysis
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Karen S. Yee, Costel Chirila, Eric Davenport, Deirdre Mladsi, Christine Barnett, William G. Kronenberger (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Caregiver experiences of intrathecal idursulfase-IT treatment in pediatric patients with neuronopathic mucopolysaccharidosis type II
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Karen S. Yee, Sandy Lewis, Emily Evans, Carla Romano, David Alexanderian (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
A longitudinal report of neurocognitive abnormalities and their impact on quality of life in non-neuronopathic MPS II
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Brianna D. Yund, Kyle Rudser, Elsa Shapiro, Kelly E. King, Alicia Kunin-Batson, Chester B. Whitley, Julie B. Eisengart (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
A comprehensive analysis of rare diseases in China through questionnaire and interviews
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Xiangyu Zhang, Xuefeng Li, Shu Zhang, Zijuan Lu, Jianyong Zhang, Jincheng Zhou, Li Ou (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Functional connectivity alterations in MPS I mouse brain at the laminar level revealed by resting-state fMRI
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Wei Zhu, Kyle Schaible, Yi Zhang, Xiao-Hong Zhu, Perry Hackett, Walter Low, Wei Chen (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Safety of intracisternal administration of AAV9 based gene therapy: Case series of PR001 in infants with type 2 Gaucher disease
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Zion Zibly, Yair Anikster, Shoshana Revel-Vilk, Ari Zimran, Mark Lowrey, Eriene A. Youssef, Jeffery Sevigny, Bryan Pukenas (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
WORLDSymposium™ 2021 Author Index
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
WORLDSymposium™ 2021 Keyword Index
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Clinical characteristics and journey to diagnosis in patients with mucopolysaccharidosis type VII
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Hatice Serap Sivri, Şahin Erdöl (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Morquio B disease: From pathophysiology towards diagnosis
Publication date: Available online 1 February 2021Source: Molecular Genetics and MetabolismAuthor(s): Anna Caciotti, Lucrezia Cellai, Rodolfo Tonin, Davide Mei, Elena Procopio, Maja Di Rocco, Antonio Andaloro, Daniela Antuzzi, Angelica Rampazzo, Miriam Rigoldi, Giulia Forni, Giancarlo la Marca, Renzo Guerrini, Amelia Morrone (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 1, 2021 Category: Genetics & Stem Cells Source Type: research
Therapies for Alzheimer’s disease: a metabolic perspective
Publication date: Available online 27 January 2021Source: Molecular Genetics and MetabolismAuthor(s): Raquel Domingues, Claúdia Pereira, Maria Teresa Cruz, Ana Silva (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 28, 2021 Category: Genetics & Stem Cells Source Type: research
Utility of genetic testing for prenatal presentations of hypophosphatasia
Publication date: Available online 27 January 2021Source: Molecular Genetics and MetabolismAuthor(s): Brian Sperelakis-Beedham, Agnès Taillandier, Christelle Domingues, Mihelaiti Guberto, Estelle Colin, Valérie Porquet-Bordes, Anya Rothenbuhler, Jean-Pierre Salles, Deborah Wenkert, Andreas Zankl, Christine Muti, Séverine Bacrot, Brigitte Simon-Bouy, Etienne Mornet (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 28, 2021 Category: Genetics & Stem Cells Source Type: research
US-FLI score – Is it possible to predict the steatosis grade with an ultrasonographic score?
Publication date: Available online 24 January 2021Source: Molecular Genetics and MetabolismAuthor(s): Sofia A. Xavier, Sara O. Monteiro, Cátia M. Arieira, Francisca D. Castro, Joana T. Magalhães, Sílvia M. Leite, Carla M. Marinho, José B. Cotter (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - January 25, 2021 Category: Genetics & Stem Cells Source Type: research
