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Krabbe leukodystrophy

Galactosylceramide beta-galactosidase deficiencyKrabbe Disease
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Krabbe leukodystrophy" returned 0 free, full-text review articles. First 0 results:
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.
Last Updated: Apr 29, 2013

Genetic deficiencies of lysosomal catabolic pathways lead to storage disorders with multiple organ abnormalities or to degeneration of purely nervous structures. Krabbe disease and metachromatic leukodystrophy are caused by metabolic errors concerning lipids of neural membranes. They ...

Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment.
Last Updated: Jul 06, 2009

We reported the basic concept of the pathology of leukodystrophy with emphasis on Krabbe disease. First, the normal process of myelination and the pathology of demyelination will be described, emphasizing the course inducing neuro-inflammation in its progression. After classifying ...

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.
Last Updated: Nov 14, 2007

Galactocerebrosidase (GALC) is a lysosomal beta-galactosidase responsible for the hydrolysis of the galactosyl moiety from several galactolipids, including galactosylceramide and psychosine. The deficiency of this enzyme results in the autosomal recessive disorder called Krabbe disease. ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Krabbe leukodystrophy" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Krabbe leukodystrophy" returned 4 free, full-text research articles. First few results:
AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease).
Last Updated: Jul 01, 2019

Globoid cell leukodystrophy (GLD), or Krabbe disease, is an inherited, neurologic disorder that results from deficiency of a lysosomal enzyme, galactosylceramidase. Most commonly, deficits of galactosylceramidase result in widespread central and peripheral nervous system demyelination ...

Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases.
Last Updated: Oct 19, 2012

Leukodystrophies (LD) and lysosomal storage disorders (LSD) have generated increased interest recently as targets for newborn screening programs. Accurate epidemiological benchmarks are needed in the U.S. Age-specific mortality rates were estimated for Krabbe disease (KD) and nine ...

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
Last Updated: Sep 22, 2017

Krabbe leukodystrophy (KD) is a neurodegenerative lysosomal disorder caused by mutations in the galactocerebrosidase (GALC) gene. Different clinical forms are described based on the age at onset. In reported series, the early infantile form (EIKD) accounts for more than 90% of the ...

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