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Items: 1 to 20 of 31

1.

Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non-autonomous disorders: evidence from a mouse model of Krabbe leukodystrophy.

Taylor RM, Lee JP, Palacino JJ, Bower KA, Li J, Vanier MT, Wenger DA, Sidman RL, Snyder EY.

J Neurochem. 2006 Jun;97(6):1585-99.

2.

Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice.

Kondo Y, Wenger DA, Gallo V, Duncan ID.

Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18670-5. Epub 2005 Dec 13.

3.

Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation.

Luzi P, Rafi MA, Zaka M, Rao HZ, Curtis M, Vanier MT, Wenger DA.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):150-9.

PMID:
16169269
4.
5.

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease.

Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W, Kurtzberg J.

N Engl J Med. 2005 May 19;352(20):2069-81.

6.

AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy.

Rafi MA, Zhi Rao H, Passini MA, Curtis M, Vanier MT, Zaka M, Luzi P, Wolfe JH, Wenger DA.

Mol Ther. 2005 May;11(5):734-44.

7.

GALC transduction leads to morphological improvement of the twitcher oligodendrocytes in vivo.

Meng XL, Shen JS, Watabe K, Ohashi T, Eto Y.

Mol Genet Metab. 2005 Apr;84(4):332-43. Epub 2005 Jan 24.

PMID:
15781194
8.

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.

Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M.

Mol Genet Metab. 2005 Feb;84(2):160-6.

PMID:
15773042
9.

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases.

Krivit W.

Springer Semin Immunopathol. 2004 Nov;26(1-2):119-32. Epub 2004 Sep 25. Review.

PMID:
15452666
10.

Krabbe disease: neurophysiologic studies and MRI correlations.

Husain AM, Altuwaijri M, Aldosari M.

Neurology. 2004 Aug 24;63(4):617-20. Review.

PMID:
15326231
11.

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH.

Clin Chem. 2004 Oct;50(10):1785-96. Epub 2004 Aug 3.

12.

Transgenic rescue of Krabbe disease in the twitcher mouse.

De Gasperi R, Friedrich VL, Perez GM, Senturk E, Wen PH, Kelley K, Elder GA, Gama Sosa MA.

Gene Ther. 2004 Aug;11(15):1188-94.

PMID:
15164096
13.

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.

Li Y, Brockmann K, Turecek F, Scott CR, Gelb MH.

Clin Chem. 2004 Mar;50(3):638-40. No abstract available.

14.

Early peripheral nervous system manifestations of infantile Krabbe disease.

Korn-Lubetzki I, Dor-Wollman T, Soffer D, Raas-Rothschild A, Hurvitz H, Nevo Y.

Pediatr Neurol. 2003 Feb;28(2):115-8.

PMID:
12699861
15.

Alexander disease: diagnosis with MR imaging.

van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, Begeer JC, van Coster R, Barth PG, Thomas NH, Valk J, Powers JM.

AJNR Am J Neuroradiol. 2001 Mar;22(3):541-52.

16.

Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease.

Kukita Y, Furuya H, Kobayashi T, Sakai N, Hayashi K.

Genet Test. 1997-1998;1(3):217-23.

PMID:
10464649
17.

Protracted course of Krabbe disease in an adult patient bearing a novel mutation.

Jardim LB, Giugliani R, Pires RF, Haussen S, Burin MG, Rafi MA, Wenger DA.

Arch Neurol. 1999 Aug;56(8):1014-7.

PMID:
10448809
18.

Molecular heterogeneity of Krabbe disease.

Fu L, Inui K, Nishigaki T, Tatsumi N, Tsukamoto H, Kokubu C, Muramatsu T, Okada S.

J Inherit Metab Dis. 1999 Apr;22(2):155-62.

PMID:
10234611
19.

Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.

Krivit W, Shapiro EG, Peters C, Wagner JE, Cornu G, Kurtzberg J, Wenger DA, Kolodny EH, Vanier MT, Loes DJ, Dusenbery K, Lockman LA.

N Engl J Med. 1998 Apr 16;338(16):1119-26.

20.

Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene.

Luzi P, Victoria T, Rafi MA, Wenger DA.

Biochem Mol Med. 1997 Dec;62(2):159-64.

PMID:
9441867

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