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.

Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Gwendolyn Gramer, Georg F. Hoffmann, Julia B. Hennermann (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 7, 2021 Category: Genetics & Stem Cells Source Type: research

Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Shiri Curelaru, Yoav Zehavi, Tal Almagor, Ronen Spiegel (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 7, 2021 Category: Genetics & Stem Cells Source Type: research

Real-world data assessment of safety of home-based and hospital/outpatient-based laronidase enzyme replacement therapy for mucopolysaccharidosis I
Publication date: Available online 4 March 2021Source: Molecular Genetics and Metabolism ReportsAuthor(s): Amanda Wilson, Raffaella M. Colzani, Ana Lorena Flores (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 5, 2021 Category: Genetics & Stem Cells Source Type: research

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Stephen Cederbaum, Felicitas L. Lacbawan, Charles M. Rowland, Pranoot Tanpaiboon, Denise Salazar (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 4, 2021 Category: Genetics & Stem Cells Source Type: research

New mutation in Fabry disease: c.448delG, first phenotypic description
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Esteban Calabrese, Guillermo Rodriguez Botta, Dra Paula Rosenfeld (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 4, 2021 Category: Genetics & Stem Cells Source Type: research

Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Kyung Sun Park (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 27, 2021 Category: Genetics & Stem Cells Source Type: research

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon, Carlos Rugilo, Fabiana Lubieniecki, Ana Lía Taratuto, María Saccoliti, Cristina Noemi Alonso, Hilda Verónica Aráoz (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 26, 2021 Category: Genetics & Stem Cells Source Type: research

Aldolase A deficiency: Report of new cases and literature review
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): C. Papadopoulos, M. Svingou, K. Kekou, S. Vergnaud, S. Xirou, G. Niotakis, G.K. Papadimas (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 24, 2021 Category: Genetics & Stem Cells Source Type: research

Treatment experience in two adults with creatinfe transporter deficiency
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Jack Schjelderup, Sigrun Hope, Christian Vatshelle, Clara D.M. van Karnebeek (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 23, 2021 Category: Genetics & Stem Cells Source Type: research

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Jean-Marc Blouin, Cécile Ged, Ganeko Bernardo-Seisdedos, Txomin Cabantous, Benoît Pinson, Antoine Poli, Hervé Puy, Oscar Millet, Laurent Gouya, Fanny Morice-Picard, Emmanuel Richard (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 12, 2021 Category: Genetics & Stem Cells Source Type: research

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Patryk Lipiński, Anna Bogdańska, Anna Tylki-Szymańska (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 11, 2021 Category: Genetics & Stem Cells Source Type: research

The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Markku J. Savolainen, Antti Karlsson, Samppa Rohkimainen, Iiro Toppila, Mariann I. Lassenius, Carlos Vaca Falconi, Kristiina Uusi-Rauva, Kaisa Elomaa (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 10, 2021 Category: Genetics & Stem Cells Source Type: research

CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Andrés Umaña-Calderón, María José Acuña-Navas, Danny Alvarado, Mildred Jiménez, Fred Cavallo-Aita (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 9, 2021 Category: Genetics & Stem Cells Source Type: research

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 9, 2021 Category: Genetics & Stem Cells Source Type: research

Physical, cognitive, and social status of patients with urea cycle disorders in Japan
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 8, 2021 Category: Genetics & Stem Cells Source Type: research