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.

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Luise Sophie Ammer, Sandra Pohl, Sandra Rafaela Breyer, Charlotte Aries, Jonas Denecke, Anna Perez, Martin Petzoldt, Johanna Schrum, Ingo Müller, Nicole Maria Muschol (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 16, 2021 Category: Genetics & Stem Cells Source Type: research

Intra-operative kinetics of anti-HLA antibody in simultaneous liver-kidney transplantation
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): M. Kueht, P. Jindra, H.L. Stevenson, T.N. Galvan, B. Murthy, J. Goss, J. Anton, R. Abbas, M.F. Cusick (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 14, 2021 Category: Genetics & Stem Cells Source Type: research

Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Ran Kaftory, Yonatan Edel, Igor Snast, Moshe Lapidoth, Rivka Mamet, Avishay Elis, Emmilia Hodak, Assi Levi (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 14, 2021 Category: Genetics & Stem Cells Source Type: research

Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Hiroyuki Iijima, Yasuhiko Ago, Ryoji Fujiki, Takaaki Takayanagi, Mitsuru Kubota (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 11, 2021 Category: Genetics & Stem Cells Source Type: research

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 10, 2021 Category: Genetics & Stem Cells Source Type: research

Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Hebah S. Al Absi, Stephanie Sacharow, Naser Al Zein, Aisha Al Shamsi, Amal Al Teneiji (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 10, 2021 Category: Genetics & Stem Cells Source Type: research

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Claire-Marine Bérat, Célina Roda, Anais Brassier, Juliette Bouchereau, Camille Wicker, Aude Servais, Sandrine Dubois, Murielle Assoun, Claire Belloche, Valérie Barbier, Virginie Leboeuf, François M. Petit, Pauline Gaignard, Elise Lebigot, Pierre-Jean Bérat, Clément Pontoizeau, Guy Touati, Cécile Talbotec, Florence Campeotto, Chris Ottolenghi (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 6, 2021 Category: Genetics & Stem Cells Source Type: research

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Carlos Pablo de Fuenmayor-Fernández de la Hoz, Germán Morís, Cecilia Jiménez-Mallebrera, Carmen Badosa, Aurelio Hernández-Laín, Alberto Blázquez Encinar, Miguel Ángel Martín, Cristina Domínguez-González (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 6, 2021 Category: Genetics & Stem Cells Source Type: research

Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Marina Dutra-Clarke, Daisy Tapia, Emily Curtin, Dennis Rünger, Grace K. Lee, Anita Lakatos, Zyza Alandy-Dy, Linda Freedkin, Kathy Hall, Nesrin Ercelen, Jousef Alandy-Dy, Margaret Knight, Madeleine Pahl, Dawn Lombardo, Virginia Kimonis (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 1, 2021 Category: Genetics & Stem Cells Source Type: research

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Regeneron Genetics Center, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 31, 2020 Category: Genetics & Stem Cells Source Type: research

Leigh syndrome associated with TRMU gene mutations
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Júlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de las Heras, Amaia Lasa-Aranzasti, Elena Garcia-Arumi, Lidia Carreño, Jose Antonio Arranz, Clara Carnicer, María Unceta-Suárez, Angel Sanchez-Montañez, Laura Gort, Frederic Tort, Mireia del Toro (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 17, 2020 Category: Genetics & Stem Cells Source Type: research

Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Elizabeth Kellom, Kimberly Stepien, Gregory Rice, Barry Wolf (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 17, 2020 Category: Genetics & Stem Cells Source Type: research

Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Brooke E. Kimbrell, Faith Hicks, Cortney B. Foster, Omayma A. Kishk, Sara A. Quinteros-Fernandez, Maria Eleni Nikita, Carol L. Greene (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 14, 2020 Category: Genetics & Stem Cells Source Type: research

Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Faruk Pekgül, Nesibe Gevher Eroğlu-Ertuğrul, Can Ebru Bekircan-Kurt, Sevim Erdem-Ozdamar, Arda Çetinkaya, Ersin Tan, Bahadır Konuşkan, Ergun Karaağaoğlu, Meral Topçu, Nurten Ayşe Akarsu, Kader K. Oguz, Banu Anlar, Hatice Asuman Özkara (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 13, 2020 Category: Genetics & Stem Cells Source Type: research

SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening
Publication date: Available online 11 December 2020Source: Molecular Genetics and Metabolism ReportsAuthor(s): N. Vitturi, L. Lenzini, F. Francini-Pesenti, G. Gugelmo, A. Avogaro (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 13, 2020 Category: Genetics & Stem Cells Source Type: research