Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa
Publication date: Available online 26 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Priya S. Kishnani, Guillermo del Angel, Shanggen Zhou, Eric T. Rush (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 27, 2021 Category: Genetics & Stem Cells Source Type: research
The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44
Publication date: Available online 18 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Orly Goldstein, Mali Gana-Weisz, Reut Attar, Anat Bar-Shira, Martine Lederkremer, Tamara Shiner, Avner Thaler, Anat Mirelman, Nir Giladi, Avi Orr-Urtreger (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 19, 2021 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: April 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 19, 2021 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: April 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 4Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 19, 2021 Category: Genetics & Stem Cells Source Type: research
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy
Publication date: Available online 14 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Paula Garcia, Dawn Phillips, JoAnn Johnson, Kenneth Martin, Linda M. Randolph, Howard Rosenfeld, Paul Harmatz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 15, 2021 Category: Genetics & Stem Cells Source Type: research
Detection of 3-o-methyldopa in dried blood spots for neonatal diagnosis of aromatic l-amino-acid decarboxylase deficiency: The northeastern ITALIAN experience
Publication date: Available online 13 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Alberto Burlina, Antonella Giuliani, Giulia Polo, Daniela Gueraldi, Vincenza Gragnaniello, Chiara Cazzorla, Thomas Opladen, Georg Hoffmann, Nenad Blau, Alessandro P. Burlina (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 14, 2021 Category: Genetics & Stem Cells Source Type: research
MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations
Publication date: Available online 13 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Robin Dagher, Rami Massie, Benoit J. Gentil (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 14, 2021 Category: Genetics & Stem Cells Source Type: research
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes
Publication date: Available online 13 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Gabriella Horvath, Nenad Blau, Carlos Ferreira (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 14, 2021 Category: Genetics & Stem Cells Source Type: research
Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome
Publication date: Available online 11 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Robert M.H. Grange, Rohit Sharma, Hardik Shah, Bryn Reinstadler, Olga Goldberger, Marissa K. Cooper, Akito Nakagawa, Yusuke Miyazaki, Allyson G. Hindle, Annabelle J. Batten, Gregory R. Wojtkiewicz, Grigorij Schleifer, Aranya Bagchi, Eizo Marutani, Rajeev Malhotra, Donald B. Bloch, Fumito Ichinose, Vamsi K. Mootha, Warren M. Zapol (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 12, 2021 Category: Genetics & Stem Cells Source Type: research
Bloom syndrome and the underlying causes of genetic instability
Publication date: Available online 10 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Mouna Ababou (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 11, 2021 Category: Genetics & Stem Cells Source Type: research
Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia
Publication date: Available online 10 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Yoshiyuki Okano, Miki Okamoto, Masahide Yazaki, Ayano Inui, Toshihiro Ohura, Kei Murayama, Yoriko Watanabe, Daisuke Tokuhara, Yasuhiro Takeshima (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 11, 2021 Category: Genetics & Stem Cells Source Type: research
The natural history of neurocognition in MPS disorders: A review
Publication date: Available online 11 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Elsa Shapiro, Julie Eisengart (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 11, 2021 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: March 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 10, 2021 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: March 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 3Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 10, 2021 Category: Genetics & Stem Cells Source Type: research
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias
Publication date: Available online 10 March 2021Source: Molecular Genetics and MetabolismAuthor(s): Allison J. Armstrong, Maria Sol Collado, Brad R. Henke, Matthew W. Olson, Steve A. Hoang, Christin A. Hamilton, Taylor D. Pourtaheri, Kimberly A. Chapman, Marshall M. Summar, Brian A. Johns, Brian R. Wamhoff, John E. Reardon, Robert A. Figler (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - March 10, 2021 Category: Genetics & Stem Cells Source Type: research
