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European Journal of Human Genetics : EJHG|May 17, 2022
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variantFrancesco Nicita, Fabrizia Stregapede, Federica Deodato, et al.
Orphanet Journal of Rare Diseases|July 14, 2019
Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegenerationRandall D Marshall, Abigail Collins, Maria L Escolar, et al.
Molecular Genetics and Metabolism|June 23, 2015
Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiencyKevin A Strauss, Carlos Ferreira, Teodoro Bottiglieri, et al.
The New England Journal of Medicine|December 30, 2025
An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis IIJoseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
Neuroimage|May 21, 2013
Diffusion imaging quality control via entropy of principal direction distributionMahshid Farzinfar, Ipek Oguz, Rachel G Smith, et al.
Molecular Genetics and Metabolism|September 12, 2020
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpointsJohanna H van der Lee, Jonathan Morton, Heather R Adams, et al.
Molecular Genetics and Metabolism|May 15, 2017
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedureJohanna H van der Lee, Jonathan Morton, Heather R Adams, et al.
Neuron|May 7, 2020
Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-CorrectionNadav I Weinstock, Daesung Shin, Narayan Dhimal, et al.
Molecular Therapy. Methods & Clinical Development|August 21, 2023
Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulationManuela Corti, Barry J Byrne, Dominic J Gessler, et al.
International Journal of Molecular Sciences|July 26, 2020
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II PatientsAkhil Bhalla, Ritesh Ravi, Meng Fang, et al.
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