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.

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Aizeddin A. Mhanni, Christiane Auray-Blais, Michel Boutin, Alie Johnston, Kaye LeMoine, Jill Patterson, Johannes M.F.G. Aerts, Michael L. West, Cheryl Rockman-Greenberg (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 24, 2020 Category: Genetics & Stem Cells Source Type: research

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Maria Rosaria Barillari, Marianthi Karali, Valentina Di Iorio, Maria Contaldo, Vincenzo Piccolo, Maria Esposito, Giuseppe Costa, Giuseppe Argenziano, Rosario Serpico, Marco Carotenuto, Gerarda Cappuccio, Sandro Banfi, Paolo Melillo, Francesca Simonelli (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 20, 2020 Category: Genetics & Stem Cells Source Type: research

Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Jennifer Bennett, Marina Kerr, Steven C. Greenway, Marisa W. Friederich, Johan L.K. Van Hove, Dustin Hittel, Aneal Khan (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 16, 2020 Category: Genetics & Stem Cells Source Type: research

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 8, 2020 Category: Genetics & Stem Cells Source Type: research

Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Rie Chida-Naomiya, Masaru Shimura, Ryuhei Nagao, Atsushi Kumada, Hisashi Kawashima (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 7, 2020 Category: Genetics & Stem Cells Source Type: research

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Stephen G. Kaler, Carlos R. Ferreira, Lung S. Yam (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 5, 2020 Category: Genetics & Stem Cells Source Type: research

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Cristel C. Chapel-Crespo, Ricardo Villalba, Raymond Wang, Monica Boyer, Richard Chang, Hans R. Waterham, Jose E. Abdenur (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 5, 2020 Category: Genetics & Stem Cells Source Type: research

PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Mohammed A. Almuqbil, Hilary J. Vernon, Marcia Ferguson, Antonie D. Kline (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 4, 2020 Category: Genetics & Stem Cells Source Type: research

Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Karamjot Sidhu, Steven K. Boyd, Aneal Khan (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 1, 2020 Category: Genetics & Stem Cells Source Type: research

Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto, Ayako Matsunaga, Masaki Takayanagi, Kei Murayama (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 1, 2020 Category: Genetics & Stem Cells Source Type: research

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Andrea Gropman, Martine Uittenbogaard, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Anne Chiaramello (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Ryosuke Bo, Ikuma Musha, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hiroyuki Awano, Masato Arao, Toru Kikuchi, Takeshi Taketani, Akira Ohtake, Seiji Yamaguchi, Kazumoto Iijima (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

First 1.5 years of pegvaliase clinic: Experiences and outcomes
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Stephanie Sacharow, Cassandra Papaleo, Kyla Almeida, Benjamin Goodlett, Amy Kritzer, Harvey Levy, Leslie Martell, Ann Wessel, Krista Viau (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 26, 2020 Category: Genetics & Stem Cells Source Type: research

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 25, 2020 Category: Genetics & Stem Cells Source Type: research

Pharmacokinetics of oral l-serine supplementation in a single patient
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Danny E. Miller, Carlos R. Ferreira, Anna I. Scott, Irene J. Chang (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 22, 2020 Category: Genetics & Stem Cells Source Type: research