High-fat diet associated sensitization to metabolic stress in Wfs1 heterozygous mice
Publication date: Available online 13 July 2021Source: Molecular Genetics and MetabolismAuthor(s): Marilin Ivask, Vallo Volke, Atso Raasmaja, Sulev Kõks (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 13, 2021 Category: Genetics & Stem Cells Source Type: research

A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
Publication date: Available online 7 July 2021Source: Molecular Genetics and MetabolismAuthor(s): Frits A. Wijburg, Chester B. Whitley, Joseph Muenzer, Serena Gasperini, Mireia del Toro, Nicole Muschol, Maureen Cleary, Caroline Sevin, Elsa Shapiro, David Alexanderian (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 9, 2021 Category: Genetics & Stem Cells Source Type: research

Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019 May;127(1):12–22]
Publication date: Available online 7 July 2021Source: Molecular Genetics and MetabolismAuthor(s): Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, Carla Carducci, Vincenzo Leuzzi, Corinne Gemperle, Todd Berner, Keith Hyland, Beat Thöny, Georg F. Hoffmann, Carla B. Voltattorni, Nenad Blau (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 8, 2021 Category: Genetics & Stem Cells Source Type: research

Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses
Publication date: Available online 6 July 2021Source: Molecular Genetics and MetabolismAuthor(s): Julie B. Eisengart, Amy Esler, N. Mathew Ellinwood, Rebekah L. Hudock, Kelly E. King, Terri L. Klein, Chimei Lee, Jonathan Morton, Kim Stephens, Richard Ziegler, Cara O'Neill (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 6, 2021 Category: Genetics & Stem Cells Source Type: research

Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States
Publication date: Available online 1 July 2021Source: Molecular Genetics and MetabolismAuthor(s): Barbara K. Burton, Alexandra Ellis, Blair Orr, Shilpa Chatlani, Kwangchae Yoon, Jessica R. Shoaff, Dan Gallo (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - July 2, 2021 Category: Genetics & Stem Cells Source Type: research

Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma
Publication date: Available online 25 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Uma Ramaswami, Eugen Mengel, Abdelkrim Berrah, Moeenaldeen AlSayed, Alex Broomfield, Aimee Donald, Hadeel M. seif El Dein, Selena Freisens, Wuh-Liang Hwu, M. Judith Peterschmitt, Han-Wook Yoo, Magy Abdelwahab (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 26, 2021 Category: Genetics & Stem Cells Source Type: research

Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening
Publication date: Available online 24 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Ryan H. Peretz, Nicholas Ah. Mew, Hilary J. Vernon, Rebecca D. Ganetzky (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2021 Category: Genetics & Stem Cells Source Type: research

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis
Publication date: Available online 24 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Olivia E. Rowe, D. Rangaprakash, Akila Weerasekera, Neha Godbole, Elizabeth Haxton, Peter F. James, Christopher D. Stephen, Robert L. Barry, Florian S. Eichler, Eva-Maria Ratai (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2021 Category: Genetics & Stem Cells Source Type: research

Childhood-onset hereditary spastic paraplegia and its treatable mimics
Publication date: Available online 24 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Darius Ebrahimi-Fakhari, Afshin Saffari, Phillip L. Pearl (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 25, 2021 Category: Genetics & Stem Cells Source Type: research

Cover 2 / Ed. Board
Publication date: July 2021Source: Molecular Genetics and Metabolism, Volume 133, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 18, 2021 Category: Genetics & Stem Cells Source Type: research

Table of Contents
Publication date: July 2021Source: Molecular Genetics and Metabolism, Volume 133, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 18, 2021 Category: Genetics & Stem Cells Source Type: research

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
Publication date: Available online 10 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Marisa W. Friederich, Gabrielle C. Geddes, Saskia B. Wortmann, Ann Punnoose, Eric Wartchow, Kaz M. Knight, Holger Prokisch, Geralyn Creadon-Swindell, Johannes A. Mayr, Johan L.K. Van Hove (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 16, 2021 Category: Genetics & Stem Cells Source Type: research

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Publication date: Available online 11 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Anna Čechová, Tomáš Honzík, Andrew C. Edmondson, Can Ficicioglu, Mercedes Serrano, Rita Barone, Pascale De Lonlay, Manuel Schiff, Peter Witters, Christina Lam, Marc Patterson, Mirian C.H. Janssen, Joana Correia, Dulce Quelhas, Jolanta Sykut-Cegielska, Horacio Plotkin, Eva Morava, Kyriakie Sarafoglou (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 16, 2021 Category: Genetics & Stem Cells Source Type: research

MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses
Publication date: Available online 15 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Luís Dias Ferreira Soares, Gerda Cristal Villalba Silva, Francyne Kubaski, Roberto Giugliani, Ursula Matte (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 16, 2021 Category: Genetics & Stem Cells Source Type: research

Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity
Publication date: Available online 15 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Sun H. Peck, Yian Khai Lau, Jennifer L. Kang, Megan Lin, Toren Arginteanu, Dena R. Matalon, Justin R. Bendigo, Patricia O'Donnell, Mark E. Haskins, Margret L. Casal, Lachlan J. Smith (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 16, 2021 Category: Genetics & Stem Cells Source Type: research