Molecular Genetics and Metabolism

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Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency
Molecular Genetics and Metabolism - Tập 116 - Trang 88-97 - 2015
Melissa P. Wasserstein, Simon A. Jones, Handrean Soran, George A. Diaz, Natalie Lippa, Beth L. Thurberg, Kerry Culm-Merdek, Elias Shamiyeh, Haig Inguilizian, Gerald F. Cox, Ana Cristina Puga
Arginases I and II: do their functions overlap?
Molecular Genetics and Metabolism - Tập 81 - Trang 38-44 - 2004
Stephen D Cederbaum, Hong Yu, Wayne W Grody, Rita M Kern, Paul Yoo, Ramaswamy K Iyer
Clinical features of Fabry disease in patients with mutations amenable and non-amenable to migalastat
Molecular Genetics and Metabolism - Tập 126 - Trang S76-S77 - 2019
Derralynn Hughes, Cathy Qin, De Silva, Lucia Lavalle, Uma Ramaswami, Atul Mehta
Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder
Molecular Genetics and Metabolism - Tập 102 - Trang 161-169 - 2011
Kirit Pindolia, Megan Jordan, Caiying Guo, Nell Matthews, Donald M. Mock, Erin Strovel, Miriam Blitzer, Barry Wolf
Human HOX gene disorders
Molecular Genetics and Metabolism - Tập 111 - Trang 4-15 - 2014
Shane C. Quinonez, Jeffrey W. Innis
A new method utilising superparamagnetic magnetite for simple and rapid purification of ultra pure, high yield, functional lysosomes from lysosomal disease cells
Molecular Genetics and Metabolism - Tập 111 Số 2 - Trang S68-S69 - 2014
Emyr Lloyd‐Evans, Mathew Walker
Generation of a Mouse with Low Galactocerebrosidase Activity by Gene Targeting: A New Model of Globoid Cell Leukodystrophy (Krabbe Disease)
Molecular Genetics and Metabolism - Tập 73 - Trang 211-223 - 2001
Paola Luzi, Mohammad A. Rafi, Mariam Zaka, Mark Curtis, Marie T. Vanier, David A. Wenger
Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series
Molecular Genetics and Metabolism - Tập 123 - Trang 123-126 - 2018
Elsa Shapiro, Alia Ahmed, Chester Whitley, Kathleen Delaney
Heparin cofactor II–thrombin complex: A biomarker of MPS disease
Molecular Genetics and Metabolism - Tập 94 - Trang 456-461 - 2008
Derrick R. Randall, Karen E. Colobong, Harmony Hemmelgarn, Graham B. Sinclair, Elly Hetty, Anita Thomas, Olaf A. Bodamer, Barbara Volkmar, Paul M. Fernhoff, Robin Casey, Alicia K. Chan, Grant Mitchell, Silvia Stockler, Serge Melancon, Tony Rupar, Lorne A. Clarke
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII
Molecular Genetics and Metabolism - Tập 136 - Trang 28-37 - 2022
Heather A. Lau, David Viskochil, Pranoot Tanpaiboon, Antonio Gonzalez-Meneses Lopez, Esmeralda Martins, Julie Taylor, Betsy Malkus, Lin Zhang, Agnieszka Jurecka, Deborah Marsden
Tổng số: 2,068   
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