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The beta-glucuronidase intracisternal A particle insertion model results in similar overall MPSVII phenotype as the single base deletion model when on the same C57BL/6J mouse background
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): Sean C. Devanney, Joseph M. Gibney, Colleen G. Le Prell, Thomas J. Wronski, J.I. Aguirre, Issam Mcdoom, Coy D. Heldermon (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 7, 2021 Category: Genetics & Stem Cells Source Type: research

Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): A. Höller, U. Albrecht, S. Baumgartner Sigl, T. Zöggeler, G. Ramoser, B. Bernar, D. Karall, S. Scholl-Bürgi (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 6, 2021 Category: Genetics & Stem Cells Source Type: research

Spinal cerebrotendinous xanthomatosis: A case report and literature review
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Isis Atallah, Diego San Millán, Wicki Benoît, Belinda Campos-Xavier, Andrea Superti-Furga, Christel Tran (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 4, 2021 Category: Genetics & Stem Cells Source Type: research

“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”
Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): O.M. Espitia Segura, Z. Hernández, N.I. Mancilla, R.A. Naranjo, L. Tavera (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 4, 2021 Category: Genetics & Stem Cells Source Type: research

The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Yu Abe, Yu Aihara, Wakaba Endo, Hiroshi Hasegawa, Kimiyoshi Ichida, Mitsugu Uematsu, Shigeo Kure (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 3, 2021 Category: Genetics & Stem Cells Source Type: research

Emerging considerations on mitochondrial and cytosolic metabolic features in SDH-deficient cancer cells
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Joseph Vamecq, Pascal Pigny (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 3, 2021 Category: Genetics & Stem Cells Source Type: research

Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Ertugrul Kiykim, Ozge Oguz, Cisem Duman, Tanyel Zubarioglu, Mehmet Serif Cansever, Ayse Cigdem Aktuglu Zeybek (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 31, 2021 Category: Genetics & Stem Cells Source Type: research

Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Archana Natarajan, Rita Christopher, Shruti V. Palakuzhiyil, Sadanandavalli Retnaswami Chandra (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 31, 2021 Category: Genetics & Stem Cells Source Type: research

SLC35A2-CDG: Novel variant and review
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 31, 2021 Category: Genetics & Stem Cells Source Type: research

Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Francesca Miselli, Alice Brambilla, Giovanni Battista Calabri, Silvia Favilli, Maria Chiara Sanvito, Luca Ragni, Francesco Torcetta, Katia Rossi, Maria Alice Donati, Elena Procopio (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 31, 2021 Category: Genetics & Stem Cells Source Type: research

Nutrient management in the intrapartum period in maternal maple syrup urine disease
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Chika Takano, Mika Ishige, Erika Ogawa, Nobuhiko Nagano, Tamaki Morohashi, Aya Okahashi, Kaori Kawakami, Atsushi Komatsu, Kei Kawana, Tatsuhiko Urakami, Ichiro Morioka (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 30, 2021 Category: Genetics & Stem Cells Source Type: research

MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Leire Torices, Javier de las Heras, Juan Carlos Arango-Lasprilla, Jesús M. Cortés, Caroline E. Nunes-Xavier, Rafael Pulido (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 28, 2021 Category: Genetics & Stem Cells Source Type: research

Continuation of pegvaliase treatment during pregnancy: A case report
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Monica Boyer, Janette Skaar, Mary Sowa, Justin R. Tureson, Cristel C. Chapel-Crespo, Richard Chang (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 28, 2021 Category: Genetics & Stem Cells Source Type: research

Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Bharesh K. Chauhan, Anagha Medsinge, Hannah L. Scanga, Charleen T. Chu, Ken K. Nischal (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 27, 2021 Category: Genetics & Stem Cells Source Type: research

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
Publication date: March 2021Source: Molecular Genetics and Metabolism Reports, Volume 26Author(s): Nina Lenherr, John Christodoulou, John Duley, Doreen Dobritzsch, Lynette Fairbanks, Alexandre N. Datta, Isabel Filges, Nicolas Gürtler, Jeroen Roelofsen, André B.P. van Kuilenburg, Claudia Kemper, Erin E. West, Gabor Szinnai, Martina Huemer (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 21, 2021 Category: Genetics & Stem Cells Source Type: research