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
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder
Molecular Genetics and Metabolism - Tập 100 - Trang 29-36 - 2010
D.S. Froese, S. Healy, M. McDonald, G. Kochan, U. Oppermann, F.H. Niesen, R.A. Gravel
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
N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice
Molecular Genetics and Metabolism - Tập 118 - Trang 100-110 - 2016
Xenia Kaidonis, Sharon Byers, Enzo Ranieri, Peter Sharp, Janice Fletcher, Ainslie Derrick-Roberts
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
Tổng số: 2,068   
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