|1.||Wenger, David A: 14 articles (11/2015 - 04/2004)|
|2.||Sands, Mark S: 10 articles (04/2015 - 09/2005)|
|3.||Rafi, Mohammad A: 9 articles (11/2015 - 05/2005)|
|4.||Martino, Sabata: 8 articles (06/2015 - 03/2009)|
|5.||Luzi, Paola: 7 articles (11/2015 - 05/2005)|
|6.||Gritti, Angela: 6 articles (06/2015 - 03/2009)|
|7.||Luddi, Alice: 6 articles (03/2015 - 05/2009)|
|8.||Costantino-Ceccarini, Elvira: 6 articles (11/2014 - 05/2009)|
|9.||Bongarzone, Ernesto R: 6 articles (10/2014 - 12/2007)|
|10.||Bunnell, Bruce A: 6 articles (02/2014 - 01/2008)|
|1.||Globoid Cell Leukodystrophy (Krabbe Disease)
03/01/2009 - "The determination of cellular beta-galactocerebrosidase activity is an established procedure to diagnose Krabbe disease and monitor the efficacy of gene/stem cell-based therapeutic approaches aimed at restoring defective enzymatic activity in patients or disease models. "
02/01/2008 - "To investigate the effects of Tat-PTD addition on the subcellular localization of the lysosomal enzyme galactocerebrosidase (GALC, EC 18.104.22.168) and with a view towards designing improved therapeutic strategies for Krabbe disease (globoid cell leukodystrophy), mouse GALC was tagged C-terminally with the Tat-PTD. "
08/01/2012 - "To assess the utility of a telephone-based interview system in providing ongoing monitoring of the developmental and functional status of children with both positive newborn screens for Krabbe disease and low galactocerebrosidase activity on confirmatory testing, and to determine whether this approach provides improved compliance with follow-up compared with formal neuropsychological testing. "
06/01/2009 - "This study characterized the therapeutic benefits of combining hematogenous cell replacement with lentiviral-mediated gene transfer of galactosylceramidase (GALC) in Twitcher mice, a bona fide model for Krabbe disease. "
01/01/1997 - "We report here a detailed ultrastructural study of a brain biopsy along with post-mortem brain and optic nerve specimens from a case of Krabbe disease, a relatively rare leukodystrophy caused by a mutation in the gene for galactocerebrosidase (GALC) mapped to the 14q31 region of chromosome 14. "
|2.||Central Nervous System Diseases (CNS Diseases)
|3.||Demyelinating Diseases (Demyelinating Disease)
06/01/2000 - "The twitcher mouse is a murine model of globoid cell leukodystropy, a genetic demyelinating disease caused by a mutation of the galactosylceramidase gene. "
06/01/2014 - "In Krabbe's disease (KD), a leukodystrophy caused by β-galactosylceramidase deficiency, demyelination and a myelin-independent axonopathy contributes to the severe neuropathology. "
02/01/2014 - "Krabbe's disease (KD) is a demyelinating disorder caused by the deficiency of lysosomal galactocerebrosidase (GALC), affecting both the central (CNS) and the peripheral nervous system (PNS). "
01/01/2014 - "Globoid-cell Leukodystrophy (GLD; Krabbe's disease) is a rapidly progressing inherited demyelinating disease caused by a deficiency of the lysosomal enzyme Galactosylceramidase (GALC). "
12/17/2013 - "Deficiencies in the enzyme β-galactocerebrosidase (GALC) cause Krabbe disease, a devastating genetic disorder characterized by widespread demyelination and rapid, fatal neurodegeneration. "
|4.||Neurodegenerative Diseases (Neurodegenerative Disease)
01/01/2013 - "Globoid cell leukodystrophy (Krabbe's disease) is an autosomal recessive neurodegenerative disorder that results from the deficiency of galactosylceramidase, a lysosomal enzyme involved in active myelination. "
11/01/2012 - "Globoid cell leukodystrophy (GLD) or Krabbe disease is a neurodegenerative disorder caused by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC). "
09/01/2012 - "Globoid cell leukodystrophy (GLD, Krabbe disease), is an autosomal recessive, neurodegenerative disease caused by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC). "
12/01/2009 - "Globoid cell leukodystrophy is an inherited neurodegenerative disorder caused by a deficiency of the lysosomal enzyme galactosylceramidase. "
12/01/2009 - "Globoid cell leukodystrophy (GLD) or Krabbe disease is a neurodegenerative disorder caused by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC). "
|5.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
10/15/2015 - "Globoid cell leukodystrophy (GLD) is an autosomal recessive, lysosomal storage disease caused by deficiency of the enzyme galactocerebrosidase (GALC). "
09/01/2015 - "An inherited deficiency of β-galactosylceramidase (GALC) causes the lysosomal storage disease globoid cell leukodystrophy (GLD). "
06/15/2015 - "Globoid cell leukodystrophy (GLD) is a lysosomal storage disease caused by deficient activity of β-galactocerebrosidase (GALC). "
01/01/2015 - "Globoid cell leukodystrophy (GLD) is a demyelinating lysosomal storage disease due to the deficiency of the galactocerebrosidase (GALC) enzyme. "
08/01/2014 - "Krabbe disease or globoid cell leukodystrophy is a degenerative, lysosomal storage disease resulting from the deficiency of β-galactocerebrosidase activity. "
|2.||DNA (Deoxyribonucleic Acid)
|6.||Complementary DNA (cDNA)
|1.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
|3.||Transplantation (Transplant Recipients)