hydrogen has been researched along with Gaucher Disease in 1 studies
Hydrogen: The first chemical element in the periodic table with atomic symbol H, and atomic number 1. Protium (atomic weight 1) is by far the most common hydrogen isotope. Hydrogen also exists as the stable isotope DEUTERIUM (atomic weight 2) and the radioactive isotope TRITIUM (atomic weight 3). Hydrogen forms into a diatomic molecule at room temperature and appears as a highly flammable colorless and odorless gas.
dihydrogen : An elemental molecule consisting of two hydrogens joined by a single bond.
Gaucher Disease: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 1 (100.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Tang, L | 1 |
Coales, SJ | 1 |
Morrow, JA | 1 |
Edmunds, T | 1 |
Hamuro, Y | 1 |
1 other study available for hydrogen and Gaucher Disease
Article | Year |
---|---|
Characterization of the N370S mutant of glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Topics: Amino Acid Substitution; Deuterium; Gaucher Disease; Glucosylceramidase; Humans; Hydrogen; Imino Pyr | 2012 |