Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 100

1.

Newborn screening for Krabbe's disease.

Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M.

J Neurosci Res. 2016 Nov;94(11):1063-75. doi: 10.1002/jnr.23781. Review.

2.

Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?

Carter RL, Wrabetz L, Jalal K, Orsini JJ, Barczykowski AL, Matern D, Langan TJ.

J Neurosci Res. 2016 Nov;94(11):1084-93. doi: 10.1002/jnr.23793.

PMID:
27638594
3.

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.

Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA.

J Neurosci Res. 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905.

PMID:
27638593
4.

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

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; New York State Krabbe Disease Consortium.

Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21.

PMID:
26795590
5.

Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.

Jang DS, Ye W, Guimei T, Solomon M, Southall N, Hu X, Marugan J, Ferrer M, Maegawa GH.

J Neurosci Res. 2016 Nov;94(11):1231-45. doi: 10.1002/jnr.23875.

6.
7.

Late juvenile-onset Krabbe's disease.

Baker RH, Trautmann JC, Younge BR, Nelson KD, Zimmerman D.

Ophthalmology. 1990 Sep;97(9):1176-80.

PMID:
2234850
8.

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

Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ.

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

9.

[Krabbe's disease--globoid cell leukodystrophy].

Andersen JB.

Ugeskr Laeger. 1997 Feb 10;159(7):927-32. Danish.

PMID:
9054082
10.

Diffusion tensor imaging: A biomarker of outcome in Krabbe's disease.

Poretti A, Meoded A, Fatemi A.

J Neurosci Res. 2016 Nov;94(11):1108-15. doi: 10.1002/jnr.23769. Review.

PMID:
27638596
11.

Newborn screening for Krabbe disease: the New York State model.

Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP.

Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010.

PMID:
19302934
12.

Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.

Turgeon CT, Orsini JJ, Sanders KA, Magera MJ, Langan TJ, Escolar ML, Duffner P, Oglesbee D, Gavrilov D, Tortorelli S, Rinaldo P, Raymond K, Matern D.

J Inherit Metab Dis. 2015 Sep;38(5):923-9. doi: 10.1007/s10545-015-9822-z. Epub 2015 Mar 12.

PMID:
25762404
13.

[Krabbe's disease (globoid cell leukodystrophy). Apropos of 5 cases].

Rosemberg S, Kliemann SE, Arita FN.

Arq Neuropsiquiatr. 1992 Sep;50(3):334-42. Portuguese.

PMID:
1308412
14.

Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging.

Bajaj NP, Waldman A, Orrell R, Wood NW, Bhatia KP.

J Neurol Neurosurg Psychiatry. 2002 May;72(5):635-8.

16.

Chaperones as potential therapeutics for Krabbe disease.

Graziano AC, Pannuzzo G, Avola R, Cardile V.

J Neurosci Res. 2016 Nov;94(11):1220-30. doi: 10.1002/jnr.23755. Review.

PMID:
27638605
17.

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.

18.

Treatment for Krabbe's disease: Finding the combination.

Mikulka CR, Sands MS.

J Neurosci Res. 2016 Nov;94(11):1126-37. doi: 10.1002/jnr.23822. Review.

19.

A practical chromogenic procedure for the diagnosis of Krabbe's disease.

Gal AE, Brady RO, Pentchev PG, Furbish FS, Suzuki K, Tanaka H, Schneider EL.

Clin Chim Acta. 1977 May 16;77(1):53-9.

PMID:
17489
20.

Quantum dots and potential therapy for Krabbe's disease.

Dawson G.

J Neurosci Res. 2016 Nov;94(11):1293-303. doi: 10.1002/jnr.23805. Review.

Supplemental Content

Support Center