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.

Fatal acute haemolysis and methaemoglobinaemia in a man with renal failure and Alkaptonuria – Is nitisinone the solution?
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): A.S. Davison, E. Luangrath, E. Selvi, L.R. Ranganath (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 17, 2020 Category: Genetics & Stem Cells Source Type: research

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Dawn Phillips, Julia B. Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos, Nathalie Guffon, Yasmina Amraoui, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Allan M. Lund (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 9, 2020 Category: Genetics & Stem Cells Source Type: research

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Martin Castelle, Aude Servais, Jean Donadieu, Juliette Bouchereau, Bénédicte Pigneur, Philippe Labrune, Frank M. Ruemmele, Pascale de Lonlay (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 9, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Shahram Yazdani, Anish Badjatiya, Naghmeh Dorrani, Hane Lee, Wayne W. Grody, Stanley F. Nelson, Katrina M. Dipple (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 8, 2020 Category: Genetics & Stem Cells Source Type: research

Expression analysis of genes involved in mitochondrial biogenesis in mice with MPTP-induced model of Parkinson's disease
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): M.M. Rudenok, A.Kh. Alieva, J.S. Starovatykh, M.S. Nesterov, V.A. Stanishevskaya, A.A. Kolacheva, M.V. Ugryumov, P.A. Slominsky, M.I. Shadrina (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 8, 2020 Category: Genetics & Stem Cells Source Type: research

Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Jess G. Thoene, Monte A. DelMonte, Jodi Mullet (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 8, 2020 Category: Genetics & Stem Cells Source Type: research

The PKU & ME study: A qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Lidia Borghi, Carlotta Moreschi, Alessandra Toscano, Peter Comber, Elena Vegni (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 3, 2020 Category: Genetics & Stem Cells Source Type: research

Mtrr hypomorphic mutation alters liver morphology, metabolism and fuel storage in mice
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Alice P. Sowton, Nisha Padmanabhan, Simon J. Tunster, Ben D. McNally, Antonio Murgia, Aisha Yusuf, Julian L. Griffin, Andrew J. Murray, Erica D. Watson (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 25, 2020 Category: Genetics & Stem Cells Source Type: research

Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Anja F. Köhn, Lorenz Grigull, Marcel du Moulin, Sarah Kabisch, Luise Ammer, Cornelia Rudolph, Nicole M. Muschol (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 24, 2020 Category: Genetics & Stem Cells Source Type: research

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Camille Desprairies, Apolline Imbard, Bérengère Koehl, Mathie Lorrot, Jean Gaschignard, Julie Sommet, Samia Pichard, Laurent Holvoet, Albert Faye, Malika Benkerrou, Jean-François Benoist, Manuel Schiff (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 18, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Wanee Plengpanich, Suwanna Muanpetch, Supannika Charoen, Arunrat Kiateprungvej, Weerapan Khovidhunkit (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 11, 2020 Category: Genetics & Stem Cells Source Type: research

Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Barbara Trimarco, Filippo Manti, Francesca Nardecchia, Sergio Melogno, Mara Testa, Giovanni Meledandri, Claudia Carducci, Roberta Penge, Vincenzo Leuzzi (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 10, 2020 Category: Genetics & Stem Cells Source Type: research

Successful desensitization of Pegvaliase (Palynziq®) in a patient with phenylketonuria
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Meera Patrawala, Merin Kuruvilla, Hong Li (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 7, 2020 Category: Genetics & Stem Cells Source Type: research

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): MarthaL. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 28, 2020 Category: Genetics & Stem Cells Source Type: research

Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Jennifer Beazer, Jane Breck, Caroline Eggerding, Patricia Gordon, Stephanie Hacker, Amie Thompson, The PKU Lost to Follow-Up Recommendations Group (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 25, 2020 Category: Genetics & Stem Cells Source Type: research