Globoid cell leukodystrophy

Known as: Globoid Cell Leukoencephalopathies, Galactosylceramide Lipidosis, Galactosylceramidase Deficiency Diseases 
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency… (More)
  • figure 6
  • figure 1
  • figure 2
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Globoid cell leukodystrophy (GLD; also known as Krabbe disease) is an invariably fatal lysosomal storage disorder caused by… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2006
Highly Cited
2006
NOTE: The construct we described as moody-GAL4 has a name that was assigned to a different construct in a previously published… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Review
2003
Review
2003
The classic globoid cell leukodystrophy (Krabbe's disease) is caused by genetic defects in a lysosomal enzyme… (More)
Is this relevant?
2002
2002
We examined three autopsy cases of globoid cell leukodystrophy (GLD) with different survival, using immunohistochemistry and in… (More)
Is this relevant?
Highly Cited
2001
Highly Cited
2001
BACKGROUND Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of… (More)
  • figure 1
  • table 2
  • figure 2
  • table 3
  • table 4
Is this relevant?
Highly Cited
1998
Highly Cited
1998
BACKGROUND Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central… (More)
Is this relevant?
Highly Cited
1991
Highly Cited
1991
BACKGROUND Hyperhomocysteinemia arising from impaired methionine metabolism, probably usually due to a deficiency of… (More)
Is this relevant?
1991
1991
A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically… (More)
Is this relevant?
Highly Cited
1980
Highly Cited
1980
The Twitcher is a new neurological mutant of mouse which shows clinical and histopathological features similar to those of human… (More)
Is this relevant?