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Acta Paediatrica (Oslo, Norway : 1992)|May 28, 2008
Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry diseaseDavid F Moore, Ehud Goldin, Monique P Gelderman, et al.
The Journal of Biological Chemistry|November 30, 2011
Early alterations of brain cellular energy homeostasis in Huntington disease modelsFanny Mochel, Brandon Durant, Xingli Meng, et al.
Orphanet Journal of Rare Diseases|July 13, 2023
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literatureAna Potic, Stefanie Perrier, Tijana Radovic, et al.
Plos One|June 28, 2012
Developmental splicing deregulation in leukodystrophies related to EIF2B mutationsAurélia Huyghe, Laetitia Horzinski, Alain Hénaut, et al.
Nature Genetics|September 5, 2006
Lamin B1 duplications cause autosomal dominant leukodystrophyQuasar S Padiath, Kazumasa Saigoh, Raphael Schiffmann, et al.
Biochemical Society Symposium|March 27, 2003
MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brainsMark Sutton-Smith, Howard R Morris, Prabhjit K Grewal, et al.
Muscle & Nerve|November 26, 2003
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry diseaseRaphael Schiffmann, Mary Kay Floeter, James M Dambrosia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2006
Quantitative dysmorphology assessment in Fabry diseaseMarkus Ries, David F Moore, Chevalia J Robinson, et al.
Transfusion Medicine Reviews|April 3, 2007
Guidelines on the use of intravenous immune globulin for neurologic conditionsTom Feasby, Brenda Banwell, Timothy Benstead, et al.
Pediatrics|October 4, 2006
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reportedGustavo H B Maegawa, Tracy Stockley, Michael Tropak, et al.
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