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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1969 2
1972 1
1973 1
1974 1
1975 1
1976 3
1977 5
1978 3
1979 4
1981 3
1982 1
1983 1
1984 3
1985 4
1987 1
1988 2
1989 2
1990 1
1991 3
1992 2
1993 2
1994 2
1995 8
1997 3
1998 4
1999 3
2000 1
2001 2
2002 4
2003 4
2004 4
2005 4
2006 4
2007 1
2008 6
2009 4
2010 6
2011 4
2012 4
2013 4
2014 5
2015 2
2016 22
2017 1
2018 2
2019 6
2020 2
2021 4
2022 5
2023 2

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161 results

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Page 1
Krabbe disease: New hope for an old disease.
Bradbury AM, Bongarzone ER, Sands MS. Bradbury AM, et al. Neurosci Lett. 2021 May 1;752:135841. doi: 10.1016/j.neulet.2021.135841. Epub 2021 Mar 22. Neurosci Lett. 2021. PMID: 33766733 Free PMC article. Review.
Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD) characterized by progressive and profound demyelination. ...Unfortunately, Krabbe disease has been relatively refractory to most single-therapy interventions. Although hematopoi …
Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD) characterized by progressive and prof …
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. Kwon JM, et al. Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. Orphanet J Rare Dis. 2018. PMID: 29391017 Free PMC article. Review.
BACKGROUND: Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplantation which improves surv …
BACKGROUND: Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with t …
Oncosuppressive and oncogenic activity of the sphingolipid-metabolizing enzyme β-galactosylceramidase.
Belleri M, Chiodelli P, Corli M, Capra M, Presta M. Belleri M, et al. Biochim Biophys Acta Rev Cancer. 2022 Jan;1877(1):188675. doi: 10.1016/j.bbcan.2021.188675. Epub 2021 Dec 31. Biochim Biophys Acta Rev Cancer. 2022. PMID: 34974112 Review.
beta-galactosylceramidase (GALC) is a lysosomal enzyme that removes beta-galactose from beta-galactosylceramide, leading to the formation of the oncosuppressor metabolite ceramide. ...
beta-galactosylceramidase (GALC) is a lysosomal enzyme that removes beta-galactose from beta-galactosylceramide, …
Early recognition of patients with leukodystrophies.
Modesti NB, Evans SH, Jaffe N, Vanderver A, Gavazzi F. Modesti NB, et al. Curr Probl Pediatr Adolesc Health Care. 2022 Dec;52(12):101311. doi: 10.1016/j.cppeds.2022.101311. Epub 2022 Dec 2. Curr Probl Pediatr Adolesc Health Care. 2022. PMID: 36470810 Review.
This review provides five hypothetical clinical presentations and describes the disease mechanisms, typical symptoms, and treatments currently available for common leukodystrophies: Krabbe Disease, Aicardi Goutieres Syndrome (AGS), Metachromatic leukodystrophy (MLD), Alexa …
This review provides five hypothetical clinical presentations and describes the disease mechanisms, typical symptoms, and treatments current …
Dysmyelination revisited.
Poser CM. Poser CM. Arch Neurol. 1978 Jul;35(7):401-8. doi: 10.1001/archneur.1978.00500310003001. Arch Neurol. 1978. PMID: 352308 Review.
Newborn Screening for Lysosomal Storage Disorders.
Anderson S. Anderson S. J Pediatr Health Care. 2018 May-Jun;32(3):285-294. doi: 10.1016/j.pedhc.2017.04.016. J Pediatr Health Care. 2018. PMID: 29678259 Review.
It offers information about each of the conditions including enzyme deficiency, mode of inheritance, incidence rates, types, clinical course, and available as well as potential treatment options....
It offers information about each of the conditions including enzyme deficiency, mode of inheritance, incidence rates, types, clinical …
Clinical management of Krabbe disease.
Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K. Escolar ML, et al. J Neurosci Res. 2016 Nov;94(11):1118-25. doi: 10.1002/jnr.23891. J Neurosci Res. 2016. PMID: 27638597 Review.
The only disease-modifying treatment currently available is hematopoietic stem cell transplantation, which is effective only when performed early in the course of the disease. ...
The only disease-modifying treatment currently available is hematopoietic stem cell transplantation, which is effective only when per …
Perspective on innovative therapies for globoid cell leukodystrophy.
Ricca A, Gritti A. Ricca A, et al. J Neurosci Res. 2016 Nov;94(11):1304-17. doi: 10.1002/jnr.23752. J Neurosci Res. 2016. PMID: 27638612 Review.
Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a lysosomal storage disorder resulting from deficiency of the lysosomal hydrolase galactosylceramidase. ...
Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a lysosomal storage disorder resulting from deficiency …
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.
Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at the end of the first year of life with motor delay or regression and cerebellar signs, followed by progressive spasticity. ...We performed a l …
Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at th …
161 results