Below are the most recent publications written about "Galactosylceramidase" by people in Profiles.
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Calderwood L, Wenger DA, Matern D, Dahmoush H, Watiker V, Lee C. Rare Saposin A deficiency: Novel variant and psychosine analysis. Mol Genet Metab. 2020 02; 129(2):161-164.
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Bradbury AM, Rafi MA, Bagel JH, Brisson BK, Marshall MS, Pesayco Salvador J, Jiang X, Swain GP, Prociuk ML, ODonnell PA, Fitzgerald C, Ory DS, Bongarzone ER, Shelton GD, Wenger DA, Vite CH. AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease). Hum Gene Ther. 2018 07; 29(7):785-801.
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Wenger DA, Rafi MA, Luzi P. Krabbe disease: One Hundred years from the bedside to the bench to the bedside. J Neurosci Res. 2016 11; 94(11):982-9.
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Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA. Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. J Neurosci Res. 2016 11; 94(11):1076-83.
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Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M. Newborn screening for Krabbe disease in New York State: the first eight years' experience. Genet Med. 2016 Mar; 18(3):239-48.
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Rafi MA, Rao HZ, Luzi P, Wenger DA. Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice. Mol Ther. 2015 Nov; 23(11):1681-1690.
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Matthes F, Andersson C, Stein A, Eistrup C, Fogh J, Gieselmann V, Wenger DA, Matzner U. Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy. Exp Neurol. 2015 Sep; 271:36-45.
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Rafi MA, Rao HZ, Luzi P, Luddi A, Curtis MT, Wenger DA. Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features. Mol Genet Metab. 2015 Mar; 114(3):459-66.
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Biela-Banas A, Oula?di F, Front S, Gallienne E, Ikeda-Obatake K, Asano N, Wenger DA, Martin OR. Iminosugar-based galactoside mimics as inhibitors of galactocerebrosidase: SAR studies and comparison with other lysosomal galactosidases. ChemMedChem. 2014 Dec; 9(12):2647-52.
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Wenger DA, Luzi P, Rafi MA. Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? Mol Genet Metab. 2014 Mar; 111(3):307-308.