Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome
Publication date: Available online 6 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Mendy M. Welsink-Karssies, Anouk Schrantee, Matthan W.A. Caan, Carla E.M. Hollak, Mirian C.H. Janssen, Esmee Oussoren, Maaike C. de Vries, Stefan D. Roosendaal, Marc Engelen, Annet M. Bosch (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 7, 2020 Category: Genetics & Stem Cells Source Type: research
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders
Publication date: Available online 7 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Roland Posset, Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea L. Gropman, Sandesh C.S. Nagamani, Svenja Scharre, Joris Probst, Magdalena E. Walter, Georg F. Hoffmann, Sven F. Garbade, Matthias Zielonka, on behalf of the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 7, 2020 Category: Genetics & Stem Cells Source Type: research
Fetal glycosylation defect due to ALG3 and GOG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype
Publication date: Available online 7 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Alejandro Ferrer, Rodrigo Tzovenos Starosta, Wasantha Ranatunga, Dani Ungar, Tamas Kozicz, Eric Klee, Laura M. Rust, Myra Wick, Eva Morava (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 7, 2020 Category: Genetics & Stem Cells Source Type: research
The variability conundrum in neurometabolic degenerative diseases
Publication date: Available online 6 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Clara D.M. van Karnebeek, Phillip A. Richmond, Frans van der Kloet, Wyeth Wasserman, Marc Engelen, Stephan Kemp (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 6, 2020 Category: Genetics & Stem Cells Source Type: research
Corrigendum to “A systematic cross-sectional survey of multiple sulfatase deficiency” [Mol Genet Metab. 2020 Aug;130(4):283–288]
Publication date: Available online 2 November 2020Source: Molecular Genetics and MetabolismAuthor(s): Gerarda Cappuccio, Marianna Alagia, Nicola Brunetti-Pierri (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - November 3, 2020 Category: Genetics & Stem Cells Source Type: research
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia
Publication date: Available online 3 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Olivia Wenger, Miraides Brown, Brandon Smith, Devyani Chowdhury, Andrew H. Crosby, Emma L. Baple, Mark Yoder, William Laxen, Silvia Tortorelli, Kevin A. Strauss (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 28, 2020 Category: Genetics & Stem Cells Source Type: research
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin
Publication date: Available online 26 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Arian Pourmehdi Lahiji, Karl E. Anderson, Amy Chan, Amy Simon, Robert J. Desnick, V.M. Sadagopa Ramanujam (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 27, 2020 Category: Genetics & Stem Cells Source Type: research
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review
Publication date: Available online 20 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Chelsie N. Poffenberger, Sara Inati, Nahid Tayebi, Barbara Stubblefield, Emory Ryan, Raphael Schiffmann, Ellen Sidransky, Grisel Lopez (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 20, 2020 Category: Genetics & Stem Cells Source Type: research
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation
Publication date: Available online 17 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Silvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, Anil K. Madugundu, Mayank Saraswat, Angie Lichty, Sunnie Y.W. Wong, Stephen McGee, Katharine Kubiak, Anna Ligezka, Wasantha Ranatunga, Yuebo Zhang, Tim Wood, Michael J. Friez, Katie Clarkson, Akhilesh Pandey, Julie R. Jones, Eva Morava (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 18, 2020 Category: Genetics & Stem Cells Source Type: research
Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1
Publication date: Available online 18 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Antony Cougnoux, Julia C. Yerger, Mason Fellmeth, Jenny Serra-Vinardell, Christopher A. Wassif, Niamh X. Cawley, Forbes D. Porter (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 18, 2020 Category: Genetics & Stem Cells Source Type: research
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation
Publication date: Available online 16 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Adrián González-Quintana, María J. Trujillo-Tiebas, Ana L. Fernández-Perrone, Alberto Blázquez, Alejandro Lucia, María Morán, Cristina Ugalde, Joaquín Arenas, Carmen Ayuso, Miguel A. Martín (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 17, 2020 Category: Genetics & Stem Cells Source Type: research
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution
Publication date: Available online 13 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Frederic Tort, Estibaliz Barredo, Ranjani Parthasarathy, Olatz Ugarteburu, Xenia Ferrer-Cortès, Judit García-Villoria, Laura Gort, Adrián González-Quintana, Miguel A. Martín, Erika Fernández-Vizarra, Massimo Zeviani, Antonia Ribes (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 14, 2020 Category: Genetics & Stem Cells Source Type: research
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome
Publication date: Available online 14 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Thomas Johnstone, Jennifer Wang, Daron Ross, Nicholas Balanda, Yan Huang, Rena Godfrey, Catherine Groden, Brandon R. Barton, William Gahl, Camilo Toro, May Christine V. Malicdan (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 14, 2020 Category: Genetics & Stem Cells Source Type: research
Proteomics for the study of new biomarkers in Fabry disease: State of the art
Publication date: Available online 14 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Federica Rossi, Vincenzo L'Imperio, Hans-Peter Marti, Einar Svarstad, Andrew Smith, Maddalena Maria Bolognesi, Fulvio Magni, Fabio Pagni, Federico Pieruzzi (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 14, 2020 Category: Genetics & Stem Cells Source Type: research
Benign or not benign? Deep phenotyping of liver glycogen storage disease IX
Publication date: Available online 10 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Samuela A. Fernandes, Gabrielle E. Cooper, Rebecca Anne Gibson, Priya S. Kishnani (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - October 11, 2020 Category: Genetics & Stem Cells Source Type: research
