6-hexadecanoylamino-4-methylumbelliferyl-galactopyranoside and Leukodystrophy, Globoid Cell
6-hexadecanoylamino-4-methylumbelliferyl-galactopyranoside has been researched along with Leukodystrophy, Globoid Cell in 4 studies
*Leukodystrophy, Globoid Cell: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses. [MeSH]
Research
Studies (4)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (25.00) | 18.7374 |
| 1990's | 2 (50.00) | 18.2507 |
| 2000's | 1 (25.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
Authors
| Authors | Studies |
|---|---|
| Kolodny, EH; Krivit, W; Kurtzberg, J; Pastores, GM; Raghavan, S; Torres, PA; Zeng, B | 1 |
| Kolodny, E; Raghavan, S; Wiederschain, G | 1 |
| Grimm, U; Machill, G; Seidlitz, G; Widerschain, G; Zschiesche, M | 1 |
| Kozlova, IK; Petushkova, NA; Tsvetkova, IV; Vidershaĭn, GIa | 1 |
Other Studies
4 other study(ies) available for 6-hexadecanoylamino-4-methylumbelliferyl-galactopyranoside and Leukodystrophy, Globoid Cell
| Article | Year |
|---|---|
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.
Topics: Alleles; Central Nervous System; Cryopreservation; DNA, Complementary; Fetal Blood; Galactosides; Galactosylceramidase; Hematopoietic Stem Cell Transplantation; Heterozygote; HLA Antigens; Homozygote; Humans; Hymecromone; Leukodystrophy, Globoid Cell; Lysosomes; Mutation; Polymorphism, Genetic | 2005 |
Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease.
Topics: Animals; Brain; Carbohydrate Sequence; Cells, Cultured; Clinical Enzyme Tests; Dose-Response Relationship, Drug; Female; Fibroblasts; Fluorescent Dyes; Galactosides; Galactosylceramidase; Galactosylceramides; Humans; Hydrolysis; Hymecromone; Leukocytes; Leukodystrophy, Globoid Cell; Male; Mice; Mice, Inbred C57BL; Molecular Sequence Data; Oleic Acid; Oleic Acids; Substrate Specificity; Taurocholic Acid | 1992 |
Use of a fluorogenic substrate, 6-hexadecanoylamino-4-methylumbelliferyl-beta-D-galactopyranoside, in the diagnosis of Krabbe disease.
Topics: Cells, Cultured; Fibroblasts; Fluorescent Dyes; Galactosides; Galactosylceramidase; Humans; Hymecromone; Leukodystrophy, Globoid Cell | 1991 |
[A study of various properties of beta-galactocerebrosidase from human chorion using synthetic fluorescent substrates].
Topics: Cells, Cultured; Chorion; Fibroblasts; Fluorescent Dyes; Galactosidases; Galactosides; Galactosylceramidase; Glycosides; Humans; Hydrogen-Ion Concentration; Hymecromone; Kinetics; Leukodystrophy, Globoid Cell; Substrate Specificity; Umbelliferones | 1988 |