PubMed

A model in response to newborn screening mandates.

Duffner PK.

Pediatr Neurol. 2009 Aug;41(2):156. No abstract available. PMID: 19589470 [PubMed - indexed for MEDLINE]Related articles

Psychosine accumulates in membrane microdomains in the brain of krabbe patients, disrupting the raft architecture.

White AB, Givogri MI, Lopez-Rosas A, Cao H, van Breemen R, Thinakaran G, Bongarzone ER.

J Neurosci. 2009 May 13;29(19):6068-77.PMID: 19439584 [PubMed - indexed for MEDLINE]Related articlesFree article

Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease.

Escolar ML, Poe MD, Smith JK, Gilmore JH, Kurtzberg J, Lin W, Styner M.

AJNR Am J Neuroradiol. 2009 May;30(5):1017-21. Epub 2009 Apr 22.PMID: 19386732 [PubMed - indexed for MEDLINE]Related articles

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York.

Duffner PK, Caviness VS Jr, Erbe RW, Patterson MC, Schultz KR, Wenger DA, Whitley C.

Genet Med. 2009 Jun;11(6):450-4.PMID: 19346954 [PubMed - indexed for MEDLINE]Related articles

Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment.

Sakai N.

Brain Dev. 2009 Aug;31(7):485-7. Epub 2009 Mar 29. Review.PMID: 19332366 [PubMed - indexed for MEDLINE]Related articles

Implementation of newborn screening for Krabbe disease: population study and cutoff determination.

Orsini JJ, Morrissey MA, Slavin LN, Wojcik M, Biski C, Martin M, Keutzer J, Zhang XK, Chuang WL, Elbin C, Caggana M.

Clin Biochem. 2009 Jun;42(9):877-84. Epub 2009 Feb 9.PMID: 19318021 [PubMed - indexed for MEDLINE]Related articles

Newborn screening for Krabbe disease: a model of cooperation.

Howell RR.

Pediatr Neurol. 2009 Apr;40(4):256-7. No abstract available. PMID: 19302936 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19302934 [PubMed - indexed for MEDLINE]Related articles

Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells.

Strazza M, Luddi A, Carbone M, Rafi MA, Costantino-Ceccarini E, Wenger DA.

Mol Genet Metab. 2009 May;97(1):27-34. Epub 2009 Feb 12.PMID: 19217332 [PubMed - indexed for MEDLINE]Related articles

Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study.

Romano A, De Simone R, Fasoli F, Ferrante M, Cipriani V, Fantozzi LM, Bozzao A.

J Neuroimaging. 2009 Apr;19(2):191-3. Epub 2008 Dec 23.PMID: 19141067 [PubMed - indexed for MEDLINE]Related articles

Correlation of neurodevelopmental features and MRI findings in infantile Krabbe's disease.

Provenzale JM, Peddi S, Kurtzberg J, Poe MD, Mukundan S, Escolar M.

AJR Am J Roentgenol. 2009 Jan;192(1):59-65.PMID: 19098180 [PubMed - indexed for MEDLINE]Related articles

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O.

Am J Hum Genet. 2008 Nov;83(5):643-8.PMID: 19068277 [PubMed - indexed for MEDLINE]Related articlesFree article

The Hunter's Hope Krabbe family database.

Duffner PK, Jalal K, Carter RL.

Pediatr Neurol. 2009 Jan;40(1):13-8.PMID: 19068248 [PubMed - indexed for MEDLINE]Related articles

Gene symbol: GALC. Disease: Krabbe disease.

Zakharova E, Boukina TM.

Hum Genet. 2008 Oct;124(3):299. No abstract available. PMID: 18846620 [PubMed - indexed for MEDLINE]Related articles

Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy.

Cartier N, Aubourg P.

Curr Opin Mol Ther. 2008 Oct;10(5):471-8. Review.PMID: 18830923 [PubMed - indexed for MEDLINE]Related articles

Acquired obstructive hydrocephalus in globoid-cell leukodystrophy.

Breningstall GN, Patterson RJ.

Pediatr Neurol. 2008 Oct;39(4):279-80.PMID: 18805368 [PubMed - indexed for MEDLINE]Related articles

Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.

Srinivasan J, Coleman L, Kornberg AJ.

J Paediatr Child Health. 2008 Jul-Aug;44(7-8):459-61.PMID: 18638333 [PubMed - indexed for MEDLINE]Related articles

Stem cell-based strategies for treating pediatric disorders of myelin.

Goldman SA, Schanz S, Windrem MS.

Hum Mol Genet. 2008 Apr 15;17(R1):R76-83. Review.PMID: 18632701 [PubMed - indexed for MEDLINE]Related articlesFree article

Psychosine-induced alterations in peroxisomes of twitcher mouse liver.

Contreras MA, Haq E, Uto T, Singh I, Singh AK.

Arch Biochem Biophys. 2008 Sep 15;477(2):211-8. Epub 2008 Jun 24.PMID: 18602885 [PubMed - indexed for MEDLINE]Related articlesFree article

Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.

Vanderver A, Hathout Y, Maletkovic J, Gordon ES, Mintz M, Timmons M, Hoffman EP, Horzinski L, Niel F, Fogli A, Boespflug-Tanguy O, Schiffmann R.

Neurology. 2008 Jun 3;70(23):2226-32.PMID: 18519871 [PubMed - indexed for MEDLINE]Related articles