Below are the most recent publications written about "Leukodystrophy, Globoid Cell" by people in Profiles.
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Thompson-Stone R, Ream MA, Gelb M, Matern D, Orsini JJ, Levy PA, Rubin JP, Wenger DA, Burton BK, Escolar ML, Kurtzberg J. Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):53-59.
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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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Beltran-Quintero ML, Bascou NA, Poe MD, Wenger DA, Saavedra-Matiz CA, Nichols MJ, Escolar ML. Early progression of Krabbe disease in patients with symptom onset between 0 and 5?months. Orphanet J Rare Dis. 2019 02 18; 14(1):46.
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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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Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018 02 01; 13(1):30.
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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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Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. Genet Med. 2016 12; 18(12):1235-1243.
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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.