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Molecular genetics and metabolism, ISSN 1096-7192, 08/2019
Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is... 
Journal Article
Pediatric Neurology, ISSN 0887-8994, 10/2019, Volume 99, pp. 92 - 93
Journal Article
Brain & Development, ISSN 0387-7604, 2017
Abstract Background Krabbe disease is an autosomal recessive leukodystrophy caused by the deficiency of the galactocerebrosidase (GALC). GALC deficiency... 
Neurology | Galactocerebrosidase | Leukodystrophy | GALC mutation | Krabbe disease
Journal Article
Journal of neuroscience research, ISSN 0360-4012, 11/2016, Volume 94, Issue 11, pp. 990 - 1006
Krabbe disease (KD; also called globoid cell leukodystrophy) is a genetic disorder involving demyelination of the central (CNS) and peripheral (PNS) nervous... 
myelin | globoid cell leukodystrophy | Krabbe disease | therapy
Journal Article
Pediatrics, ISSN 0031-4005, 01/2019, Volume 143, Issue Suppl 1, pp. S33 - S36
Ethical controversies may arise when genome sequencing reveals a genetic variant that is thought to be pathogenic, but the patient has no symptoms. This could... 
PEDIATRICS | KRABBE DISEASE | GENOMICS | Genotype & phenotype | Pediatrics | Genetic variance | Phenotypes | Genomes | Medical ethics | Gene sequencing
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 10, pp. 2208 - 2215
Krabbe disease (OMIM 245200) is an orphan neurometabolic disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Hard clinical... 
drug development | orphan disease | natural history | galactocerebrosidase deficiency | Krabbe disease
Journal Article
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation, ISSN 1083-8791, 09/2019
The leukodystrophies are a heterogeneous group of inherited diseases characterized by progressive demyelination of the central nervous system leading to... 
Journal Article
BBA - Molecular Cell Research, ISSN 0167-4889, 2009, Volume 1793, Issue 4, pp. 684 - 696
Journal Article
Journal of neuroscience research, ISSN 0360-4012, 11/2016, Volume 94, Issue 11, pp. 1126 - 1137
Globoid cell leukodystrophy (GLD) is an autosomal recessive neurodegenerative disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase... 
gene therapy | bone marrow transplant | lysosomal storage disease | Krabbe disease | galactocerebrosidase
Journal Article
Journal of neuroscience research, ISSN 0360-4012, 11/2016, Volume 94, Issue 11, pp. 1231 - 1245
Krabbe disease, also known as globoid-cell leukodystrophy (GLD), is a lysosomal storage disease (LSD) caused by the deficiency of the lysosomal enzyme... 
quantitative high-throughput screening | Krabbe Disease | β-galactocerebrosidase | small molecules
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 9/2019, Volume 86, Issue 9, pp. 863 - 864
Journal Article
Analyst, ISSN 0003-2654, 9/2017, Volume 142, Issue 18, pp. 338 - 3387
Gaucher disease (GD) is caused by mutations on the GBA1 gene leading to deficiency in acid β-glucosidase (GCase) and subsequent accumulation of its substrates,... 
CHEMISTRY, ANALYTICAL | KRABBE DISEASE | GLUCOSYLSPHINGOSINE | GLUCOSYLCERAMIDE | TYPE-3 | PLASMA | QUANTIFICATION | ACCUMULATION | PSYCHOSINE | DRIED BLOOD SPOTS | DEFICIENCY
Journal Article
Archives of pathology & laboratory medicine, ISSN 0003-9985, 7/2012, Volume 136, Issue 7, pp. 709 - 710
Journal Article
TRENDS IN GLYCOSCIENCE AND GLYCOTECHNOLOGY, ISSN 0915-7352, 07/2019, Volume 31, Issue 182, pp. E111 - E112
Journal Article
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