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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. Infantile, juvenile and adult-onset forms of Krabbe disease have been describe …
Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD) characterized by …
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.
Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Resende LL, et al. Radiographics. 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081. Radiographics. 2019. PMID: 30620693 Review.
Leukodystrophies usually affect children, but in the last several decades, many instances of adult leukodystrophies have been reported in the medical literature. Because the clinical manifestation of these diseases can be nonspecific, MRI can help with establishing a diagn …
Leukodystrophies usually affect children, but in the last several decades, many instances of adult leukodystrophies have been reporte …
Auditory brainstem response.
Eggermont JJ. Eggermont JJ. Handb Clin Neurol. 2019;160:451-464. doi: 10.1016/B978-0-444-64032-1.00030-8. Handb Clin Neurol. 2019. PMID: 31277868 Review.
The opposite effects occur in the maturation process, which takes about 2 years postterm; here conduction velocity increases quickly to its adult value, but synaptic delays being sensitive to synchronous release of transmitter substance take considerably longer. In neurolo …
The opposite effects occur in the maturation process, which takes about 2 years postterm; here conduction velocity increases quickly to its …
Insights into the Pathogenesis and Treatment of Krabbe Disease.
Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS. Bongarzone ER, et al. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:689-96. Pediatr Endocrinol Rev. 2016. PMID: 27491217 Review.
Krabbe disease (globoid cell leukodystrophy, GLD) is an inherited disease caused by a deficiency in the lysosomal enzyme galactocerebrosidase (GALC). ...Murine, canine, and primate models of GALC deficiency have been described and have pl …
Krabbe disease (globoid cell leukodystrophy, GLD) is an inherited disease caused by a deficiency i …
Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.
Won JS, Singh AK, Singh I. Won JS, et al. J Neurosci Res. 2016 Nov;94(11):990-1006. doi: 10.1002/jnr.23873. J Neurosci Res. 2016. PMID: 27638584 Free PMC article. Review.
Krabbe's disease (KD; also called globoid cell leukodystrophy) is a genetic disorder involving demyelination of the central (CNS) and peripheral (PNS) nervous systems. The disease may be subdivided into three types, an infantile form, whi …
Krabbe's disease (KD; also called globoid cell leukodystrophy) is a genetic disorder involving demyelinat …
Substrate reduction therapy for Krabbe's disease.
Sands SA, LeVine SM. Sands SA, et al. J Neurosci Res. 2016 Nov;94(11):1261-72. doi: 10.1002/jnr.23791. J Neurosci Res. 2016. PMID: 27638608 Review.
Krabbe's disease (KD) is a lysosomal storage disorder in which galactosylceramide, a major glycosphingolipid of myelin, and psychosine (galactose-sphingosine) cannot be adequately metabolized because of a deficiency in galactosylceramidase. ...For instance, in indiv …
Krabbe's disease (KD) is a lysosomal storage disorder in which galactosylceramide, a major glycosphingolipid of myelin, and ps …
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Iacono S, Del Giudice E, Leon A, La Bella V, Spataro R. Iacono S, et al. Neurogenetics. 2022 Apr;23(2):157-165. doi: 10.1007/s10048-021-00682-1. Epub 2022 Jan 10. Neurogenetics. 2022. PMID: 35013804 Review.
Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. ...An extensive work-up led this motor neuron disease-like disorder to be diagnosed as adult-onset KD. The patient was found to be compound heterozygous for two GALC …
Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. ...An extensive work-up led this motor …
Metabolic disorders in children.
Morris AA, Turnbull DM. Morris AA, et al. Curr Opin Neurol. 1994 Dec;7(6):535-41. doi: 10.1097/00019052-199412000-00011. Curr Opin Neurol. 1994. PMID: 7866586 Review.
This year has seen major progress in gene therapy, particularly that directed to the liver. Genes have been characterized for Wilson's disease, Krabbe's disease, Canavan's disease, adrenoleukodystrophy, glucose-6-phosphatase, and long-chain 3-hydroxyac …
This year has seen major progress in gene therapy, particularly that directed to the liver. Genes have been characterized for Wilson's di …
Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.
Zhang C, Liu Z, Dong H. Zhang C, et al. J Mol Neurosci. 2021 Jun;71(6):1185-1192. doi: 10.1007/s12031-020-01742-1. Epub 2020 Nov 14. J Mol Neurosci. 2021. PMID: 33190188 Review.
This study presented two Chinese adult female patients who were diagnosed with adult-onset Krabbe disease (KD) and reviewed this disease in Chinese patients. ...Sequence alignment and structural modeling were carried out to analyze the pathogene …
This study presented two Chinese adult female patients who were diagnosed with adult-onset Krabbe disease (KD) a …
Phenotypic variability of Krabbe disease across the lifespan.
Liao P, Gelinas J, Sirrs S. Liao P, et al. Can J Neurol Sci. 2014 Jan;41(1):5-12. doi: 10.1017/s0317167100016188. Can J Neurol Sci. 2014. PMID: 24384330 Review.
Krabbe disease (galactocerebrosidase deficiency) is an inherited leukodystrophy that results in severe neurological defects due to altered myelination. ...We also discuss diagnostic approach, emphasizing variation in biochemical, functional, and genetic resul …
Krabbe disease (galactocerebrosidase deficiency) is an inherited leukodystrophy that results in severe neurological def …
46 results