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.
Retraction notice to “Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study” [Molecular Genetics and Metabolism Reports 22 (2020) 100573].
Publication date: Available online 6 April 2021Source: Molecular Genetics and Metabolism ReportsAuthor(s): Johannes Krämer (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 6, 2021 Category: Genetics & Stem Cells Source Type: research
Evaluating psychosocial stressors in families of children with inborn errors of metabolism
Publication date: Available online 31 March 2021Source: Molecular Genetics and Metabolism ReportsAuthor(s): Nathan Grant, T. Andrew Burrow (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 1, 2021 Category: Genetics & Stem Cells Source Type: research
Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.
Publication date: Available online 31 March 2021Source: Molecular Genetics and Metabolism ReportsAuthor(s): Johannes Krämer (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 1, 2021 Category: Genetics & Stem Cells Source Type: research
Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Eugène F. Diekman, Michel van Weeghel, Mayte Suárez-Fariñas, Carmen Argmann, Pablo Ranea-Robles, Ronald J.A. Wanders, Gepke Visser, Ingeborg van der Made, Esther E. Creemers, Sander M. Houten (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 31, 2021 Category: Genetics & Stem Cells Source Type: research
The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Miroslaw Bik-Multanowski, Kinga Bik-Multanowska, Iwona Betka, Anna Madetko-Talowska (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 31, 2021 Category: Genetics & Stem Cells Source Type: research
Classical homocystinuria, is it safe to exercise?
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Aurel T. Tankeu, Geraldine Van Winckel, Belinda Campos-Xavier, Olivier Braissant, Rosette Pedro, Andrea Superti-Furga, Francesca Amati, Christel Tran (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 27, 2021 Category: Genetics & Stem Cells Source Type: research
Pregnancy in an adolescent with maple syrup urine disease: Case report
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Michelle E. Abadingo, Mary Ann R. Abacan, Jeanne Ruth U. Basas, Carmencita D. Padilla (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 27, 2021 Category: Genetics & Stem Cells Source Type: research
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Michael J. Przybilla, Christine Stewart, Timothy W. Carlson, Li Ou, Brenda L. Koniar, Rohini Sidhu, Pamela J. Kell, Xuntian Jiang, Jeanine R. Jarnes, M. Gerard O'Sullivan, Chester B. Whitley (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 26, 2021 Category: Genetics & Stem Cells Source Type: research
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Parith Wongkittichote, Garland Michael Upchurch, Louis P. Dehner, Timothy Wood, Jorge L. Granadillo (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 26, 2021 Category: Genetics & Stem Cells Source Type: research
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Francesco Cava, Ernesto Cristiano, Maria Beatrice Musumeci, Camilla Savio, Aldo Germani, Maria Lo Monaco, Simona Petrucci, Maria Rosaria Torrisi, Camillo Autore, Speranza Rubattu, Maria Piane (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 19, 2021 Category: Genetics & Stem Cells Source Type: research
Serendipitous discovery of phenylketonuria in Iraq – How to identify and treat?
Publication date: Available online 13 March 2021Source: Molecular Genetics and Metabolism ReportsAuthor(s): Daniele Suzete Persike de Oliveira, Kendra J. Bjoraker (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 14, 2021 Category: Genetics & Stem Cells Source Type: research
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): F. Ozkinay, D.A. Emecen, M. Kose, E. Isik, A.E. Bozaci, E. Canda, B. Tuysuz, T. Zubarioglu, T. Atik, H. Onay (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 14, 2021 Category: Genetics & Stem Cells Source Type: research
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Francyne Kubaski, Zackary M. Herbst, Danilo A.A. Pereira, Camilo Silva, Christine Chen, Paul W.L. Hwu, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 14, 2021 Category: Genetics & Stem Cells Source Type: research
Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Andrew B. Stergachis, Joel B. Krier, Sai K. Merugumala, Gerard T. Berry, Alexander P. Lin (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 14, 2021 Category: Genetics & Stem Cells Source Type: research
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Sarah Al-Qattan, Caroline Malcolmson, Saadet Mercimek-Andrews (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 14, 2021 Category: Genetics & Stem Cells Source Type: research