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.

Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Lalitha R. Belur, Kelly M. Podetz-Pedersen, Thuy An Tran, Joshua A. Mesick, Nathaniel M. Singh, Maureen Riedl, Lucy Vulchanova, Karen F. Kozarsky, R. Scott McIvor (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 21, 2020 Category: Genetics & Stem Cells Source Type: research

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 19, 2020 Category: Genetics & Stem Cells Source Type: research

Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Bun Sheng, Ka Fai Yim, Lin Kiu Lau, Han Chih Hencher Lee, Ka Shun Samuel Fung, Ka Fai Johnny Ma, Wai Leung Chak (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 16, 2020 Category: Genetics & Stem Cells Source Type: research

Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Yoshimitsu Osawa, Aya Wada, Yoshiaki Ohtsu, Kenji Yamada, Takumi Takizawa (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 16, 2020 Category: Genetics & Stem Cells Source Type: research

Body fat percentage in adolescents with phenylketonuria and associated factors
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Giovanna Caliman Camatta, Viviane de Cássia Kanufre, Michelle Rosa Andrade Alves, Rosângelis Del Lama Soares, Rocksane de Carvalho Norton, Marcos José Burle de Aguiar, Ana Lúcia Pimenta Starling (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 12, 2020 Category: Genetics & Stem Cells Source Type: research

Kidney and vascular function in adult patients with hereditary fructose intolerance
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Nynke Simons, François-Guillaume Debray, Nicolaas C. Schaper, Edith J.M. Feskens, Carla E.M. Hollak, Judith A.P. Bons, Jörgen Bierau, Alfons J.H.M. Houben, Casper G. Schalkwijk, Coen D.A. Stehouwer, David Cassiman, Martijn C.G.J. Brouwers (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 12, 2020 Category: Genetics & Stem Cells Source Type: research

Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Melissa Sailer, Gabriela Elizondo, Julie Martin, Cary O. Harding, Melanie B. Gillingham (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 12, 2020 Category: Genetics & Stem Cells Source Type: research

The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Nicole Ducich, Nicholas Ah Mew, Jirair K. Bedoyan (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 9, 2020 Category: Genetics & Stem Cells Source Type: research

Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 7, 2020 Category: Genetics & Stem Cells Source Type: research

Progressive macrophage accumulation in lysosomal acid lipase deficiency
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Patryk Lipiński, Joanna Cielecka-Kuszyk, Anna Bożkiewicz-Kasperczyk, Barbara Perkowska, Elżbieta Jurkiewicz, Anna Tylki-Szymańska (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 2, 2020 Category: Genetics & Stem Cells Source Type: research

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt, French Pompe study group (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 2, 2020 Category: Genetics & Stem Cells Source Type: research

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Yin-Hsiu Chien, Wen-Hui Tsai, Chaw-Liang Chang, Pao-Chin Chiu, Yen-Yin Chou, Fuu-Jen Tsai, Siew-Lee Wong, Ni-Chung Lee, Wuh-Liang Hwu (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 30, 2020 Category: Genetics & Stem Cells Source Type: research

Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Paul A. Dawson, Soohyun Lee, Adam D. Ewing, Johannes B. Prins, Helen S. Heussler (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 30, 2020 Category: Genetics & Stem Cells Source Type: research

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Eva M.M. Hoytema van Konijnenburg, Ilse K. Luirink, Sebastian E.E. Schagen, Marc Engelen, Kevin Berendse, Bwee Tien Poll-The, Malika Chegary (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 29, 2020 Category: Genetics & Stem Cells Source Type: research

Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): András Gellért Barta, Csaba Sumánszki, Zsófia Turgonyi, Erika Kiss, Erika Simon, Csilla Serfőző, Péter Reismann (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 23, 2020 Category: Genetics & Stem Cells Source Type: research