Molecular Genetics and Metabolism

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Peroxisomal Very Long Chain Fatty Acid β-Oxidation Activity Is Determined by the Level of Adrenodeukodystrophy Protein (ALDP) Expression
Molecular Genetics and Metabolism - Tập 66 - Trang 91-99 - 1999
Lelita T. Braiterman, Paul A. Watkins, Ann B. Moser, Kirby D. Smith
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
Evaluation of Urinary Acylglycines by Electrospray Tandem Mass Spectrometry in Mitochondrial Energy Metabolism Defects and Organic Acidurias
Molecular Genetics and Metabolism - Tập 69 - Trang 302-311 - 2000
Luisa Bonafé, Heinz Troxler, Thomas Kuster, Claus W. Heizmann, Néstor A. Chamoles, Alberto B. Burlina, Nenad Blau
The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study
Molecular Genetics and Metabolism - Tập 91 - Trang 48-54 - 2007
Suzanne Schindeler, Suparna Ghosh-Jerath, Susan Thompson, Antonella Rocca, Pamela Joy, Allan Kemp, Caroline Rae, Kathryn Green, Bridget Wilcken, John Christodoulou
A Novel Intronic Mutation Results in the Use of a Cryptic Splice Acceptor Site within the Coding Region of UGT1A1, Causing Crigler-Najjar Syndrome Type 1
Molecular Genetics and Metabolism - Tập 75 - Trang 134-142 - 2002
Baljit S. Sappal, Siddhartha S. Ghosh, Benjamin Shneider, Ajit Kadakol, Jayanta Roy Chowdhury, Namita Roy Chowdhury
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
The potential role of inhibitor of differentiation-3 in human adipose tissue remodeling and metabolic health
Molecular Genetics and Metabolism - Tập 113 - Trang 149-154 - 2014
Mathilde Svendstrup, Henrik Vestergaard
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
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