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4. A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease. Marques AR; Willems LI; Herrera Moro D; Florea BI; Scheij S; Ottenhoff R; van Roomen CP; Verhoek M; Nelson JK; Kallemeijn WW; Biela-Banas A; Martin OR; Cachón-González MB; Kim NN; Cox TM; Boot RG; Overkleeft HS; Aerts JM Chembiochem; 2017 Feb; 18(4):402-412. PubMed ID: 28000364 [TBL] [Abstract][Full Text] [Related]
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10. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Wenger DA; Rafi MA; Luzi P Hum Mutat; 1997; 10(4):268-79. PubMed ID: 9338580 [TBL] [Abstract][Full Text] [Related]
11. Insights into the Pathogenesis and Treatment of Krabbe Disease. Bongarzone ER; Escolar ML; Gray SJ; Kafri T; Vite CH; Sands MS Pediatr Endocrinol Rev; 2016 Jun; 13 Suppl 1():689-96. PubMed ID: 27491217 [TBL] [Abstract][Full Text] [Related]
12. Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. Harzer K; Knoblich R; Rolfs A; Bauer P; Eggers J Clin Chim Acta; 2002 Mar; 317(1-2):77-84. PubMed ID: 11814461 [TBL] [Abstract][Full Text] [Related]
13. Psychosine, a marker of Krabbe phenotype and treatment effect. Escolar ML; Kiely BT; Shawgo E; Hong X; Gelb MH; Orsini JJ; Matern D; Poe MD Mol Genet Metab; 2017 Jul; 121(3):271-278. PubMed ID: 28579020 [TBL] [Abstract][Full Text] [Related]
14. Biochemical pathogenesis of genetic leukodystrophies: comparison of metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe's disease). Suzuki K Neuropediatrics; 1984 Sep; 15 Suppl():32-6. PubMed ID: 6152811 [TBL] [Abstract][Full Text] [Related]
15. Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease. Zizioli D; Guarienti M; Tobia C; Gariano G; Borsani G; Bresciani R; Ronca R; Giacopuzzi E; Preti A; Gaudenzi G; Belleri M; Di Salle E; Fabrias G; Casas J; Ribatti D; Monti E; Presta M Biochim Biophys Acta; 2014 Apr; 1842(4):665-75. PubMed ID: 24463171 [TBL] [Abstract][Full Text] [Related]
16. Krabbe disease: involvement of connexin43 in the apoptotic effects of sphingolipid psychosine on mouse oligodendrocyte precursors. Graziano AC; Parenti R; Avola R; Cardile V Apoptosis; 2016 Jan; 21(1):25-35. PubMed ID: 26459425 [TBL] [Abstract][Full Text] [Related]
17. Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). Gucev Z; Tasic V Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2015; 36(3):99-101. PubMed ID: 27442402 [TBL] [Abstract][Full Text] [Related]
19. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Luzi P; Rafi MA; Victoria T; Baskin GB; Wenger DA Genomics; 1997 Jun; 42(2):319-24. PubMed ID: 9192853 [TBL] [Abstract][Full Text] [Related]
20. Murine, canine and non-human primate models of Krabbe disease. Wenger DA Mol Med Today; 2000 Nov; 6(11):449-51. PubMed ID: 11074371 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]