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.

Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Ali Zaki Ibrahim, D. Thirumal Kumar, Taghreed Abunada, Salma Younes, C. George Priya Doss, Osama K. Zaki, Hatem Zayed (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 17, 2020 Category: Genetics & Stem Cells Source Type: research

Combined donor-recipient genotypes of leptin receptor and adiponectin gene polymorphisms affect the incidence of complications after renal transplantation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Sonia Mota-Zamorano, Enrique Luna, Guadalupe Garcia-Pino, Luz M. González, Guillermo Gervasini (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 13, 2020 Category: Genetics & Stem Cells Source Type: research

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Hitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 10, 2020 Category: Genetics & Stem Cells Source Type: research

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Kinza Noman, Christian J. Hendriksz, Graham Radcliffe, Federico Roncaroli, Sulleman Moreea, Afifah Hussain, Karolina M. Stepien (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 8, 2020 Category: Genetics & Stem Cells Source Type: research

The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Randall C. Mazzarino, Veronika Baresova, Marie Zikánová, Nathan Duval, Terry G. Wilkinson, David Patterson, Guido N. Vacano (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 2, 2020 Category: Genetics & Stem Cells Source Type: research

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Nada Aljassim, Majid Alfadhel, Marwan Nashabat, Wafa Eyaid (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 2, 2020 Category: Genetics & Stem Cells Source Type: research

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Melike Ersoy, Valeria Tiranti, Massimo Zeviani (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 29, 2020 Category: Genetics & Stem Cells Source Type: research

Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Miroslaw Bik-Multanowski, Anna Madetko-Talowska, Iwona Betka, Elzbieta Swieczka, Bozena Didycz, Karolina Orchel-Szastak, Kinga Bik-Multanowska, Ewa Starostecka, Joanna Jaglowska, Renata Mozrzymas, Joanna Zolkowska, Katarzyna Chyz, Dorota Korycinska-Chaaban (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 22, 2020 Category: Genetics & Stem Cells Source Type: research

Surface plasmon resonance analysis of complex formation of therapeutic recombinant lysosomal enzymes with domain 9 of human cation-independent mannose 6-phosphate receptor
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Minori Kanzaki, Takahiro Tsukimura, Yasunori Chiba, Hitoshi Sakuraba, Tadayasu Togawa (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 22, 2020 Category: Genetics & Stem Cells Source Type: research

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 22, 2020 Category: Genetics & Stem Cells Source Type: research

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): C.A. González-Domínguez, A. Raya-Trigueros, S. Manrique-Hernández, A. González Jaimes, R. Salinas-Marín, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, C. Dehesa-Caballero, C. Alaez-Versón, I. Martínez-Duncker (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 20, 2020 Category: Genetics & Stem Cells Source Type: research

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Yuval E. Landau, Gali Heimer, Ortal Barel, Nechama Shalva, Dina Marek-Yagel, Alvit Veber, Elisheva Javasky, Aya Shilon, Andreea Nissenkorn, Bruria Ben-Zeev, Yair Anikster (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 15, 2020 Category: Genetics & Stem Cells Source Type: research

Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Alanna Strong, Kierstin Keller, Jamie Merves (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 15, 2020 Category: Genetics & Stem Cells Source Type: research

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): A. Maguolo, G. Rodella, A. Dianin, R. Nurti, I. Monge, E. Rigotti, G. Cantalupo, L. Salviati, S. Tucci, F. Pellegrini, G. Molinaro, F. Lupi, P. Tonin, A. Pasini, N. Campostrini, F. Ion Popa, F. Teofoli, M. Vincenzi, M. Camilot, G. Piacentini (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 13, 2020 Category: Genetics & Stem Cells Source Type: research

Behavioral, social and school functioning in children with Pompe disease
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Aditi Korlimarla, Gail A. Spiridigliozzi, Mihaela Stefanescu, Stephanie L. Austin, Priya S. Kishnani (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 13, 2020 Category: Genetics & Stem Cells Source Type: research