Should patients with Phosphomannomutase 2-CDG be screened for adrenal insufficiency?
Publication date: Available online 11 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Anna Cechova, Tomas Honzik, Andrew C. Edmondson, Can Ficicioglu, Mercedes Serrano, Rita Barone, Pascale De Lonlay, Manuel Schiff, Peter Witters, Christina Lam, Marc Patterson, Mirian C.H. Janssen, Joana Correia, Dulce Quelhas, Jolanta Sykut-Cegielska, Horacio Plotkin, Eva Morava, Kyriakie Sarafoglou (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 11, 2021 Category: Genetics & Stem Cells Source Type: research
Pathogenic variants in MRPL44 causes infantile cardiomyopathy due to a mitochondrial translation defect
Publication date: Available online 10 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Marisa W. Friederich, Gabrielle C. Geddes, Saskia B. Wortmann, Ann Punnoose, Eric Wartchow, Kaz M. Knight, Holger Prokisch, Geralyn Creadon-Swindell, Johannes A. Mayr, Johan L.K. Van Hove (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 10, 2021 Category: Genetics & Stem Cells Source Type: research
Cover 2 / Ed. Board
Publication date: June 2021Source: Molecular Genetics and Metabolism, Volume 133, Issue 2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 8, 2021 Category: Genetics & Stem Cells Source Type: research
Table of Contents
Publication date: June 2021Source: Molecular Genetics and Metabolism, Volume 133, Issue 2Author(s): (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 8, 2021 Category: Genetics & Stem Cells Source Type: research
Nutrition status of adults with phenylketonuria treated with pegvaliase
Publication date: Available online 7 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Krista Viau, Ann Wessel, Leslie Martell, Stephanie Sacharow, Fran Rohr (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 8, 2021 Category: Genetics & Stem Cells Source Type: research
Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders
Publication date: Available online 2 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Maria A. Briscione, Ashok R. Dinasarapu, Pritha Bagchi, Yuping Donsante, Kaitlyn M. Roman, Anthony M. Downs, Xueliang Fan, Jessica Hoehner, H.A. Jinnah, Ellen J. Hess (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 2, 2021 Category: Genetics & Stem Cells Source Type: research
Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I
Publication date: Available online 1 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Johannes Roth, Michal Inbar-Feigenberg, Julian Raiman, Marg Bisch, Pranesh Chakraborty, John Mitchell, Luca Di Geso (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - June 1, 2021 Category: Genetics & Stem Cells Source Type: research
Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2−/− mouse model
Publication date: Available online 25 May 2021Source: Molecular Genetics and MetabolismAuthor(s): Rebecca A. Gibson, Jeong-A Lim, Su Jin Choi, Leticia Flores, Lani Clinton, Deeksha Bali, Sarah Young, Aravind Asokan, Baodong Sun, Priya S. Kishnani (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 26, 2021 Category: Genetics & Stem Cells Source Type: research
Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients
Publication date: Available online 21 May 2021Source: Molecular Genetics and MetabolismAuthor(s): L.R. Ranganath, T. Heseltine, M. Khedr, M.F. Fisher (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 22, 2021 Category: Genetics & Stem Cells Source Type: research
Palynziq clinic: One year and 43 patients later
Publication date: Available online 19 May 2021Source: Molecular Genetics and MetabolismAuthor(s): Melissa Lah, Molly McPheron (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 19, 2021 Category: Genetics & Stem Cells Source Type: research
Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy
Publication date: Available online 13 May 2021Source: Molecular Genetics and MetabolismAuthor(s): Harrison N. Jones, Lisa D. Hobson-Webb, Maragatha Kuchibhatla, Kelly D. Crisp, Ashley Whyte-Rayson, Milisa T. Batten, Paul J. Zwelling, Priya S. Kishnani (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 15, 2021 Category: Genetics & Stem Cells Source Type: research
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan
Publication date: Available online 12 May 2021Source: Molecular Genetics and MetabolismAuthor(s): Yuta Koto, Norio Sakai, Yoko Lee, Naoko Kakee, Junko Matsuda, Kazuya Tsuboi, Nobuyuki Shimozawa, Torayuki Okuyama, Kimitoshi Nakamura, Aya Narita, Hiroshi Kobayashi, Ritei Uehara, Yoshikazu Nakamura, Koji Kato, Yoshikatsu Eto (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 13, 2021 Category: Genetics & Stem Cells Source Type: research
Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria
Publication date: Available online 11 May 2021Source: Molecular Genetics and MetabolismAuthor(s): Marianna Beghini, Felix J. Resch, Dorothea Möslinger, Vassiliki Konstantopoulou, Daniela Karall, Sabine Scholl-Bürgi, Michaela Brunner-Krainz, Barbara Plecko, Johannes Spenger, Alexandra Kautzky-Willer, Thomas Scherer, Miriam Hufgard-Leitner (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 12, 2021 Category: Genetics & Stem Cells Source Type: research
Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes
Publication date: Available online 8 May 2021Source: Molecular Genetics and MetabolismAuthor(s): Shigeo Takashima, Shoko Takemoto, Kayoko Toyoshi, Akiko Ohba, Nobuyuki Shimozawa (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 9, 2021 Category: Genetics & Stem Cells Source Type: research
A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease
Publication date: Available online 7 May 2021Source: Molecular Genetics and MetabolismAuthor(s): Valeria Bertani, Simona Prioni, Rosanna Di Lecce, Ferdinando Gazza, Luisa Ragionieri, Giuseppe Merialdi, Paolo Bonilauri, Vidhya Jagannathan, Sara Grassi, Livia Cabitta, Antonella Paoli, Amelia Morrone, Sandro Sonnino, Cord Drögemüller, Anna Maria Cantoni (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - May 9, 2021 Category: Genetics & Stem Cells Source Type: research
