Molecular Genetics and Metabolism Reports This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): A. Mhanni, N. Aylward, N. Boy, B. Martin, A. Sharma, C. Rockman-Greenberg (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 27, 2020 Category: Genetics & Stem Cells Source Type: research

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo, Dania Ferino, Manuela Zanatta, Antonella Boni, Luisa Antonini, Giovanni Crichiutti, Bruno Bembi (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 22, 2020 Category: Genetics & Stem Cells Source Type: research

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Lara M. Marten, Florian Brinkert, Desirée E.C. Smith, Holger Prokisch, Maja Hempel, René Santer (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 22, 2020 Category: Genetics & Stem Cells Source Type: research

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B.P. van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 19, 2020 Category: Genetics & Stem Cells Source Type: research

The juvenile gangliosidoses: A timeline of clinical change
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Kelly E. King, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 15, 2020 Category: Genetics & Stem Cells Source Type: research

Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Verena Peters, Sabine Strahl, Jaime Vázquez-Jiménez, Gunter Kerst, Christian Thiel (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 8, 2020 Category: Genetics & Stem Cells Source Type: research

Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Yasuko Mikami-Saito, Masamitsu Maekawa, Yoichi Wada, Tomoe Kanno, Ai Kurihara, Yuko Sato, Toshio Yamamoto, Natsuko Arai-Ichinoi, Shigeo Kure (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 7, 2020 Category: Genetics & Stem Cells Source Type: research

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 5, 2020 Category: Genetics & Stem Cells Source Type: research

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Robert J. Hopkin, Ulla Feldt-Rasmussen, Dominique P. Germain, Ana Jovanovic, Ana Maria Martins, Kathleen Nicholls, Alberto Ortiz, Juan Politei, Elvira Ponce, Carmen Varas, Frank Weidemann, Meng Yang, William R. Wilcox (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 31, 2020 Category: Genetics & Stem Cells Source Type: research

Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Madoka Uesugi, Jun Mori, Shota Fukuhara, Noriko Fujii, Tadaki Omae, Hideo Sasai, Keiko Ichimoto, Kei Murayama, Toshio Osamura, Hajime Hosoi (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 31, 2020 Category: Genetics & Stem Cells Source Type: research

A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Barbara Zapała, Olaf Chmura, Urszula Ciałowicz, Bogdan Solnica, Magdalena Krajewska-Włodarczyk, Zbigniew Żuber (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 29, 2020 Category: Genetics & Stem Cells Source Type: research

Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Sara Diels, Sander Huybreghts, Kim Van Hoorenbeeck, Guy Massa, An Verrijken, Stijn L. Verhulst, Luc F. Van Gaal, Wim Van Hul (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 28, 2020 Category: Genetics & Stem Cells Source Type: research

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 23, 2020 Category: Genetics & Stem Cells Source Type: research

Altered IHH signaling contributes to reduced chondrocyte proliferation in the growth plate of MPS VII mice
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Zhirui Jiang, Ainslie L.K. Derrick-Roberts, Sharon Byers (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 22, 2020 Category: Genetics & Stem Cells Source Type: research

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Kloth Katja, Vater Inga, Lindschau Ramona, Caliebe Almuth, Muschol Nicole Maria (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 22, 2020 Category: Genetics & Stem Cells Source Type: research