Molecular Genetics and Metabolism Reports 
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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.Case report: ‘AARS2 leukodystrophy’
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Tobias Melton Axelsen, Tzvetelina Lubenova Vammen, Mads Bak, Nelsan Pourhadi, Christian Midtgaard Stenør, Sabine Grønborg (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 13, 2021 Category: Genetics & Stem Cells Source Type: research
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Margo Sheck Breilyn, Wenyue Zhang, Chunli Yu, Melissa P. Wasserstein (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 8, 2021 Category: Genetics & Stem Cells Source Type: research
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): C.A. González-Domínguez, C.E. Villarroel, M. Rodríguez-Morales, S. Manrique-Hernández, A. González-Jaimes, F. Olvera-Rodriguez, K. Beutelspacher, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, A. Muñoz-Rivas, M.E. Cruz-Muñoz, H.M. Mora-Montes, R. Salinas-Marín, C. Alaez-Verson, I. Martínez-Duncker (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 3, 2021 Category: Genetics & Stem Cells Source Type: research
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Mojca Zerjav Tansek, Jana Kodric, Simona Klemencic, Jaap Jan Boelens, Peter M. van Hasselt, Ana Drole Torkar, Maja Doric, Alenka Koren, Simona Avcin, Tadej Battelino, Urh Groselj (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 27, 2021 Category: Genetics & Stem Cells Source Type: research
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J. Lefeber, Ivan Ivanovski, Sara Giangiobbe, Stefano Giuseppe Caraffi, Livia Garavelli, Andrea Superti-Furga (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 26, 2021 Category: Genetics & Stem Cells Source Type: research
Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Yutaro Yada, Michiko Torio, Yuhki Koga, Fumiya Yamashita, Takuya Ichimura, Katsuhide Eguchi, Masataka Ishimura, Yuichi Mushimoto, Akio Hiwatashi, Momoko Sasazuki, Ryutaro Kira, Yasunari Sakai, Shouichi Ohga (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 24, 2021 Category: Genetics & Stem Cells Source Type: research
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 13, 2021 Category: Genetics & Stem Cells Source Type: research
MAN1B1-CDG: Three new individuals and associated biochemical profiles
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 4, 2021 Category: Genetics & Stem Cells Source Type: research
Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Takahiro Tsukimura, Tomoko Shiga, Koki Saito, Yasuhiro Ogawa, Hitoshi Sakuraba, Tadayasu Togawa (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 31, 2021 Category: Genetics & Stem Cells Source Type: research
Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Simon Jones, Mahmut Coker, Antonio González-Meneses López, Jennifer Sniadecki, Jill Mayhew, Pauline Hensman, Agnieszka Jurecka (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 29, 2021 Category: Genetics & Stem Cells Source Type: research
Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Villarreal M Solano, Claudia Yazmín Cossío Mandujano, Carmen Amor Avila-Rejon, Victor Hugo Espin, Hector Paul Quintero Montaño (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 26, 2021 Category: Genetics & Stem Cells Source Type: research
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Margaret Reynolds, Laura A. Linneman, Sofia Luna, Barbara B. Warner, Yumirle P. Turmelle, Sakil S. Kulkarni, Xuntian Jiang, Geetika Khanna, Marwan Shinawi, Forbes D. Porter, Daniel S. Ory, F. Sessions Cole, Patricia I. Dickson (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 26, 2021 Category: Genetics & Stem Cells Source Type: research
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase
Publication date: September 2021Source: Molecular Genetics and Metabolism Reports, Volume 28Author(s): Júlio César Rocha, Heather Bausell, Amaya Bélanger-Quintana, Laurie Bernstein, Hülya Gökmen-Özel, Alexandra Jung, Anita MacDonald, Fran Rohr, Esther van Dam, Margret Heddrich-Ellerbrok (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 25, 2021 Category: Genetics & Stem Cells Source Type: research
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Friedrich Trefz, Ania C. Muntau, Kim M. Schneider, Julia Altevers, Christian Jacob, Sebastian Braun, Wolfgang Greiner, Ashok Jha, Mohit Jain, Ignacio Alvarez, Paul Lane, Claudia Zeiss, Frank Rutsch (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 15, 2021 Category: Genetics & Stem Cells Source Type: research
Successful pregnancy in a woman with glycogen storage disease type 6
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Luciana Hannibal, Anke Schumann, Ute Spiekerkoetter (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 9, 2021 Category: Genetics & Stem Cells Source Type: research
