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.

Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Carolina Crespo, Hernán Eiroa, María Inés Otegui, Mara Cecilia Bonetto, Lilien Chertkoff, Luis Pablo Gravina (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 11, 2020 Category: Genetics & Stem Cells Source Type: research

Cardiovascular findings in classic homocystinuria
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Marco Antônio Baptista Kalil, Karina Carvalho Donis, Fabiano de Oliveira Poswar, Bruna Bento dos Santos, Ângela Barreto Santiago Santos, Ida Vanessa Doederlein Schwartz (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 11, 2020 Category: Genetics & Stem Cells Source Type: research

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Yasuyuki Fukuhara, Ai Miura, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga, Kumiko Yanagi, Tadashi Kaname, Takanori Yamagata, Hitoshi Sakuraba, Torayuki Okuyama (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 11, 2020 Category: Genetics & Stem Cells Source Type: research

Patients with Gaucher disease display systemic oxidative stress dependent on therapy status
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Reena V. Kartha, Marcia R. Terluk, Roland Brown, Abigail Travis, Usha R. Mishra, Kyle Rudser, Heather Lau, Jeanine R. Jarnes, James C. Cloyd, Neal J. Weinreb (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 10, 2020 Category: Genetics & Stem Cells Source Type: research

Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Mousumi Bose, David D. Cuthbertson, Marsha A. Fraser, Jean-Baptiste Roullet, K. Michael Gibson, Dana R. Schules, Kelly M. Gawron, Melissa B. Gamble, Kathryn M. Sacra, Melisa J. Lopez, William B. Rizzo (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 10, 2020 Category: Genetics & Stem Cells Source Type: research

Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Maria Fuller, Rebecca Perry, Madiha Saiedi, Janice M. Fletcher, Joseph B. Selvanayagam (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 10, 2020 Category: Genetics & Stem Cells Source Type: research

In vivo biodistribution study of TAT-L-Sco2 fusion protein, developed as protein therapeutic for mitochondrial disorders attributed to SCO2 mutations
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Georgios C. Kaiafas, Dionysia Papagiannopoulou, Αndroulla N. Miliotou, Anastasia S. Tsingotjidou, Parthenopi C. Chalkidou, Aikaterini C. Tsika, George A. Spyroulias, Asterios S. Tsiftsoglou, Lefkothea C. Papadopoulou (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 10, 2020 Category: Genetics & Stem Cells Source Type: research

Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Yung-Feng Lin, Tzu-Ching Lin, Ralph Kirby, Hui-Ying Weng, Yen-Ming Liu, Dau-Ming Niu, Shih-Feng Tsai, Chia-Feng Yang (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 7, 2020 Category: Genetics & Stem Cells Source Type: research

L-Fucose treatment of FUT8-CDG
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noel, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 7, 2020 Category: Genetics & Stem Cells Source Type: research

High frequency of biotinidase deficiency in Italian population identified by newborn screening
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, Anna Caciotti, Maria Alice Donati, Amelia Morrone, Giancarlo la Marca (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 7, 2020 Category: Genetics & Stem Cells Source Type: research

Poly (A) tail length of human mitochondrial mRNAs is tissue-specific and a mutation in LRPPRC results in transcript-specific patterns of deadenylation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Shamisa Honarmand, Eric A. Shoubridge (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 7, 2020 Category: Genetics & Stem Cells Source Type: research

Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Andrés Felipe Erazo-Narváez, Juan Manuel Muñoz-Vidal, Guillermo Hernando Rodríguez-Vélez, María Amparo Acosta-Aragón (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 3, 2020 Category: Genetics & Stem Cells Source Type: research

Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Neli Bizjak, Mojca Zerjav Tansek, Magdalena Avbelj Stefanija, Barbka Repic Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Groselj (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 3, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Ioannis Zaganas, Vasilios Mastorodemos, Martha Spilioti, Lambros Mathioudakis, Helen Latsoudis, Kleita Michaelidou, Dimitra Kotzamani, Konstantinos Notas, Konstantinos Dimitrakopoulos, Irene Skoula, Stefanos Ioannidis, Eirini Klothaki, Sophia Erimaki, Georgios Stavropoulos, Vassilios Vassilikos, Georgios Amoiridis, Georgios Efthimiadis, Athanasios Evangeliou, Panayiotis Mitsias (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 1, 2020 Category: Genetics & Stem Cells Source Type: research

Successful recovery from severe hypertension in a patient with Leigh syndrome
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Yuto Arai, Kiyotaka Kosugiyama, Takuya Tamura, Sasagu Matsumoto, Akira Sudo, Hideaki Shiraishi, Cammack Ivor, Akira Ohtake, Kiyoshi Nagumo (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 29, 2020 Category: Genetics & Stem Cells Source Type: research