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Items: 13

Select item 60835851.

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

Nicholas Bascou, Anthony DeRenzo, Michele D. Poe, Maria L. Escolar

Orphanet J Rare Dis. 2018; 13: 126. Published online 2018 Aug 9. doi: 10.1186/s13023-018-0872-9

PMCID:: PMC6083585

Abstract Article PDF–1.2M

Select item 59945252.

Adult-onset Krabbe disease in two generations of a Chinese family

Tongxia Zhang, Chuanzhu Yan, Kunqian Ji, Pengfei Lin, Lingyi Chi, Xiuhe Zhao, Yuying Zhao

Ann Transl Med. 2018 May; 6(10): 174. doi: 10.21037/atm.2018.04.30

PMCID:: PMC5994525

Abstract Article PDF–2.1M

Select item 57963963.

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins, Joseph J. Orsini

Orphanet J Rare Dis. 2018; 13: 30. Published online 2018 Feb 1. doi: 10.1186/s13023-018-0766-x

PMCID:: PMC5796396

Abstract Article PDF–621K

Select item 56497614.

Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study

Matthew D. Wright, Michele D. Poe, Anthony DeRenzo, Shilpa Haldal, Maria L. Escolar

Neurology. 2017 Sep 26; 89(13): 1365–1372. doi: 10.1212/WNL.0000000000004418

PMCID:: PMC5649761

Abstract Article PDF–550K

Select item 55485935.

Psychosine, a marker of Krabbe phenotype and treatment effect

ML Escolar, BT Kiely, E Shawgo, X Hong, MH Gelb, JJ Orsini, D Matern, MD Poe

Mol Genet Metab. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Mol Genet Metab. 2017 Jul; 121(3): 271–278. Published online 2017 May 22. doi: 10.1016/j.ymgme.2017.05.015

PMCID:: PMC5548593

Abstract Article PDF–404K

Select item 48179536.

Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

Mohammad A Rafi, Han Zhi Rao, Paola Luzi, David A Wenger

Mol Ther. 2015 Nov; 23(11): 1681–1690. Prepublished online 2015 Sep 2. Published online 2015 Sep 8. doi: 10.1038/mt.2015.145

PMCID:: PMC4817953

Abstract Article PDF–1.9M

Select item 46052257.

Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy

Silvia Ungari, Annita Montepeloso, Francesco Morena, Fabienne Cocchiarella, Alessandra Recchia, Sabata Martino, Bernhard Gentner, Luigi Naldini, Alessandra Biffi

Mol Ther Methods Clin Dev. 2015; 2: 15038. Published online 2015 Oct 14. doi: 10.1038/mtm.2015.38

PMCID:: PMC4605225

Abstract Article PDF–1.9M

Select item 43756378.

Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease

A. Gupta, M.D. Poe, M.A. Styner, A. Panigrahy, M.L. Escolar

Neuroimage Clin. 2015; 7: 792–798. Published online 2014 Sep 26. doi: 10.1016/j.nicl.2014.09.014

PMCID:: PMC4375637

Abstract Article PDF–866K

Select item 40633589.

Preventable infections in children with leukodystrophy

Holly M Anderson, Jacob Wilkes, Ernest Kent Korgenski, Michael A Pulsipher, Anne J Blaschke, Adam L Hersh, Rajendu Srivastava, Joshua L Bonkowsky

Ann Clin Transl Neurol. 2014 May; 1(5): 370–374. Published online 2014 Apr 14. doi: 10.1002/acn3.61

PMCID:: PMC4063358

Abstract Article PDF–171K

Select item 367085710.

Central Nervous System Pathology Progresses Independently of KC and CXCR2 in Globoid-Cell Leukodystrophy

Adarsh S. Reddy, Jigisha R. Patel, Carole Vogler, Robyn S. Klein, Mark S. Sands

PLoS One. 2013; 8(6): e64647. Published online 2013 Jun 3. doi: 10.1371/journal.pone.0064647

PMCID:: PMC3670857

Abstract Article PDF–985K

Select item 340493911.

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease

Alice K Tanner, Ephrem L H Chin, Patricia K Duffner, Madhuri Hegde

Orphanet J Rare Dis. 2012; 7: 38. Published online 2012 Jun 15. doi: 10.1186/1750-1172-7-38

PMCID:: PMC3404939

Abstract Article PDF–1.1M

Select item 305242012.

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, David N Cooper, Mirella Filocamo

Hum Mutat. 2010 Dec; 31(12): E1894–E1915. doi: 10.1002/humu.21367