Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria
Publication date: Available online 6 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Wegberg van AMJ, Evers RAF, Burgerhof JGM, Dam van E, M.R. Heiner-Fokkema, Janssen MCH, Vries de MC, Spronsen van FJ (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 7, 2021 Category: Genetics & Stem Cells Source Type: research
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study
Publication date: Available online 27 February 2021Source: Molecular Genetics and MetabolismAuthor(s): Dafne D.G. Horovitz, Emília K.E.A. Leão, Erlane M. Ribeiro, Ana M. Martins, Anneliese L. Barth, João I.C.F. Neri, Marcelo Kerstenetzky, Ana C.M. Siqueira, Bethania F.R. Ribeiro, Chong A. Kim, Francisca C. Santos, José F.S. Franco, Leniza C.L. Lichtvan, Liane R. Giuliani, Maria Do C.S. Rodrigues, Renata C.F. Bonatti, Thaís B. Teixeira, Alexandra Gonçalves, Charles M. Lourenço, Ane S.S. Pereira (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 27, 2021 Category: Genetics & Stem Cells Source Type: research
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
Publication date: Available online 27 February 2021Source: Molecular Genetics and MetabolismAuthor(s): Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Elena Martín-Hernández, Cristina Durán-Aparicio, Abraham Merino-López, Enrique Medina-Benítez, Francisco Martínez-Azorín (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 27, 2021 Category: Genetics & Stem Cells Source Type: research
Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown
Publication date: Available online 24 February 2021Source: Molecular Genetics and MetabolismAuthor(s): Edward I. Ginns, Emory Ryan, CPMP-BC, Ellen Sidransky (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 26, 2021 Category: Genetics & Stem Cells Source Type: research
A randomized trial to examine the impact of food on pharmacokinetics of 4-phenylbutyrate and change in amino acid availability after a single oral administration of sodium 4-phenylbutyrarte in healthy volunteers
Publication date: Available online 23 February 2021Source: Molecular Genetics and MetabolismAuthor(s): Shuhei Osaka, Satoshi Nakano, Tadahaya Mizuno, Yuka Hiraoka, Kei Minowa, Saeko Hirai, Ayumu Mizutani, Yusuke Sabu, Yoshiki Miura, Toshiaki Shimizu, Hiroyuki Kusuhara, Mitsuyoshi Suzuki, Hisamitsu Hayashi (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 23, 2021 Category: Genetics & Stem Cells Source Type: research
Skeletal muscle specific mitochondrial dysfunction and altered energy metabolism in a murine model (oim/oim) of severe osteogenesis imperfecta
Publication date: Available online 20 February 2021Source: Molecular Genetics and MetabolismAuthor(s): Victoria L. Gremminger, Emily N. Harrelson, Tara K. Crawford, Adrienne Ohler, Laura C. Schulz, R. Scott Rector, Charlotte L. Phillips (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 21, 2021 Category: Genetics & Stem Cells Source Type: research
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus
Publication date: Available online 20 February 2021Source: Molecular Genetics and MetabolismAuthor(s): D. Moreno-Martinez, P. Aguiar, C. Auray-Blais, M. Beck, D.G. Bichet, A. Burlina, D. Cole, P. Elliott, U. Feldt-Rasmussen, S. Feriozzi, J. Fletcher, R. Giugliani, A. Jovanovic, C. Kampmann, M. Langeveld, O. Lidove, A. Linhart, M. Mauer, J.C. Moon, A. Muir (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 20, 2021 Category: Genetics & Stem Cells Source Type: research
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse
Publication date: Available online 11 February 2021Source: Molecular Genetics and MetabolismAuthor(s): Steven F. Dobrowolski, Cayla Sudano, Yu Leng Phua, Irina L. Tourkova, Kayla Spridik, Eric S. Goetzman, Jerry Vockley, Harry C. Blair (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 13, 2021 Category: Genetics & Stem Cells Source Type: research
Corrigendum to “Digenic variants of planar cell polarity genes in human neural tube defect patients.” Mol Genet Metab. 2018 May;124(1):94–100. doi:10.1016/j.ymgme.2018.03.005. Epub 2018 Mar 18. https://pubmed.ncbi.nlm.nih.gov/29573971/
Publication date: Available online 10 February 2021Source: Molecular Genetics and MetabolismAuthor(s): L. Wang, Y. Xiao, T. Tian, L. Jin, Y. Lei, R.H. Finnell, A. Ren (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 11, 2021 Category: Genetics & Stem Cells Source Type: research
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months
Publication date: Available online 10 February 2021Source: Molecular Genetics and MetabolismAuthor(s): Nathalie Guffon, Fanny Mochel, Manuel Schiff, Pascale De Lonlay, Claire Douillard, Christine Vianey-Saban (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 11, 2021 Category: Genetics & Stem Cells Source Type: research
Corrigendum to “Analysis of exome-sequenced UK Biobank subjects implicates genes affecting risk of hyperlipidaemia ” [131/1–2 (2020) 277–283]
Publication date: Available online 5 February 2021Source: Molecular Genetics and MetabolismAuthor(s): David Curtis (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 6, 2021 Category: Genetics & Stem Cells Source Type: research
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
Publication date: Available online 4 February 2021Source: Molecular Genetics and MetabolismAuthor(s): R.A.F. Evers, A.M.J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A.M. Bosch, A. Burlina, J. Campistol, T. Coskun, F. Feillet, M. Giżewska, S.C.J. Huijbregts, S. Kearney, M. Langeveld, V. Leuzzi, F. Maillot, A.C. Muntau, J.C. Rocha, C. Romani, F.K. Trefz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 4, 2021 Category: Genetics & Stem Cells Source Type: research
RNA-seq analysis of GBA1 haploinsufficiency in brain samples from a Parkinson mouse model
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Gani Perez, Raj Bhatnagar, Bahafta Berhe, Ellen Sidransky, Nahid Tayebi (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Impact of SARS-CoV-2 pandemic on the first Spanish national domiciliary enzymatic infusion strategy for lysosomal diseases
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Jorge Peris, María José Esteban, Jaqueline Robert, Philip Wikman, José Miguel Seguí, Ruth Cañizares, Pedro Esteve, Paloma Chazarra, María Luisa Asensio, Verónica Martínez, Azucena Sempere, David Balaz, Andrea Riaño, Lourdes Lajara, Vicente Giner (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Oral venglustat in Parkinson disease patients with a GBA mutation: Study design of part 2 of the MOVES-PD trial and patient characteristics
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): M. Judith Peterschmitt, Tanya Gurevich, Thomas Gasser, Hidemoto Saiki, Stuart Isaacson, Cheryl Waters, Anne-Marie Wills, Sharon Hassin-Baer, Tanya Simuni, Sebastiaan J.M. Gaemers, S. Pablo Sardi, Stephane Saubadu, Pascal Minini, Tanya Fischer (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
