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American Journal of Human Genetics|August 23, 2011
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophyGeneviève Bernard, Eliane Chouery, Maria Lisa Putorti, et al.
Orphanet Journal of Rare Diseases|April 29, 2018
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trialRaphael Schiffmann, Daniel G Bichet, Ana Jovanovic, et al.
The FEBS Journal|February 13, 2010
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidaseRichie Khanna, Elfrida R Benjamin, Lee Pellegrino, et al.
Brain : a Journal of Neurology|May 3, 2014
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlationEline M Hamilton, Emiel Polder, Adeline Vanderver, et al.
Nature Communications|May 2, 2019
The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cellsWeihua Tian, Zilu Ye, Shengjun Wang, et al.
Neurology. Genetics|February 7, 2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium OpinionMarjo S van der Knaap, Joshua L Bonkowsky, Adeline Vanderver, et al.
Annals of Neurology|June 27, 2009
Free sialic acid storage disease without sialuriaFanny Mochel, Bingzhi Yang, Julie Barritault, et al.
Scientific Reports|March 24, 2023
Optimizing human α-galactosidase for treatment of Fabry diseaseWilliam C Hallows, Kristen Skvorak, Nick Agard, et al.
Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.
Molecular Genetics and Metabolism|February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathiesAdeline Vanderver, Morgan Prust, Davide Tonduti, et al.
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