REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases
Publication date: Available online 7 May 2021Source: Molecular Genetics and MetabolismAuthor(s): Kimberly A. Kripps, Peter R. Baker, Janet A. Thomas, Heather E. Skillman, Laurie Bernstein, Sommer Gaughan, Casey Burns, Curtis R. Coughlin, Shawn E. McCandless, Austin A. Larson, Aaina Kochar, Chelsey F. Stillman, Erica M. Wymore, Ellie G. Hendricks, Michael Woontner, Johan L.K. Van Hove (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 7, 2021 Category: Genetics & Stem Cells Source Type: research
Porphyria attacks in prepubertal children and adolescents
Publication date: Available online 7 May 2021Source: Molecular Genetics and MetabolismAuthor(s): Daniel A. Jaramillo-Calle, Yuliana A. Martinez, Manisha Balwani, Camila Fernandez, Martin Toro (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 7, 2021 Category: Genetics & Stem Cells Source Type: research
Successful orthotopic heart transplantation in CPTII deficiency
Publication date: Available online 28 April 2021Source: Molecular Genetics and MetabolismAuthor(s): Georgianne L. Arnold, Jessie Yester, Elizabeth McCracken, Brian D. Feingold, Jerry Vockley (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 29, 2021 Category: Genetics & Stem Cells Source Type: research
Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB
Publication date: Available online 27 April 2021Source: Molecular Genetics and MetabolismAuthor(s): Nicolas J. Abreu, Bhavani Selvaraj, Kristen V. Truxal, Melissa Moore-Clingenpeel, Nicholas A. Zumberge, Kelly A. McNally, Kim L. McBride, Mai-Lan Ho, Kevin M. Flanigan (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 28, 2021 Category: Genetics & Stem Cells Source Type: research
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
Publication date: Available online 21 April 2021Source: Molecular Genetics and MetabolismAuthor(s): Charles-Joris Roux, Giulia Barcia, Manuel Schiff, Marie Sissler, Raphaël Levy, Volodia Dangouloff-Ros, Isabelle Desguerre, Shimon Edvardson, Orli Elpeleg, Agnès Rötig, Arnold Munnich, Nathalie Boddaert (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 22, 2021 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: May 2021Source: Molecular Genetics and Metabolism, Volume 133, Issue 1Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 21, 2021 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: May 2021Source: Molecular Genetics and Metabolism, Volume 133, Issue 1Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 21, 2021 Category: Genetics & Stem Cells Source Type: research
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies
Publication date: Available online 19 April 2021Source: Molecular Genetics and MetabolismAuthor(s): Nastassja Himmelreich, Nenad Blau, Beat Thöny (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 20, 2021 Category: Genetics & Stem Cells Source Type: research
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery
Publication date: Available online 18 April 2021Source: Molecular Genetics and MetabolismAuthor(s): Mary Gonzalez Melo, Noémie Remacle, Hong-Phuc Cudré-Cung, Clothilde Roux, Martin Poms, Cristina Cudalbu, Madalena Barroso, Søren Waldemar Gersting, René Günther Feichtinger, Johannes Adalbert Mayr, Michele Costanzo, Marianna Caterino, Margherita Ruoppolo, Véronique Rüfenacht, Johannes Häberle, Olivier Braissant, Diana Ballhausen (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 19, 2021 Category: Genetics & Stem Cells Source Type: research
Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress
Publication date: Available online 7 April 2021Source: Molecular Genetics and MetabolismAuthor(s): Steven F. Dobrowolski, Yu Leng Phua, Cayla Sudano, Kayla Spridik, Pascal O. Zinn, Yudong Wang, Sivakama Bharathi, Jerry Vockley, Eric Goetzman (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 8, 2021 Category: Genetics & Stem Cells Source Type: research
Biomarkers for liver disease in urea cycle disorders
Publication date: Available online 8 April 2021Source: Molecular Genetics and MetabolismAuthor(s): Sandesh C.S. Nagamani, Saima Ali, Rima Izem, Deborah Schady, Prakash Masand, Benjamin L. Shneider, Daniel H. Leung, Lindsay C. Burrage (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 8, 2021 Category: Genetics & Stem Cells Source Type: research
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease
Publication date: Available online 3 April 2021Source: Molecular Genetics and MetabolismAuthor(s): Robert Thompson-Stone, Margie A. Ream, Michael Gelb, Dietrich Matern, Joseph J. Orsini, Paul A. Levy, Jennifer P. Rubin, David A. Wenger, Barbara K. Burton, Maria L. Escolar, Joanne Kurtzberg (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 3, 2021 Category: Genetics & Stem Cells Source Type: research
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome
Publication date: Available online 31 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Shih-hsin Kan, Ibrahim Elsharkawi, Steven Q. Le, Heather Prill, Linley Mangini, Jonathan D. Cooper, Roger Lawrence, Mark S. Sands, Brett E. Crawford, Patricia I. Dickson (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - April 2, 2021 Category: Genetics & Stem Cells Source Type: research
Male but not female mice with severe osteogenesis imperfecta are partially protected from high-fat diet-induced obesity
Publication date: Available online 30 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Josephine T. Tauer, Iris Boraschi-Diaz, Omar Al Rifai, Frank Rauch, Mathieu Ferron, Svetlana V. Komarova (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 31, 2021 Category: Genetics & Stem Cells Source Type: research
Tristetraprolin: A cytosolic regulator of mRNA turnover moonlighting as transcriptional corepressor of gene expression
Publication date: Available online 26 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Gabriel Rodríguez-Gómez, Alejandro Paredes-Villa, Mayte Guadalupe Cervantes-Badillo, Jessica Paola Gómez-Sonora, Jesús H. Jorge-Pérez, Rafael Cervantes-Roldán, Alfonso León-Del-Río (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 27, 2021 Category: Genetics & Stem Cells Source Type: research
