Page last updated: 2024-10-18

hydrogen and Gaucher Disease

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.

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Tang, L1
Coales, SJ1
Morrow, JA1
Edmunds, T1
Hamuro, Y1

Other Studies

1 other study available for hydrogen and Gaucher Disease

ArticleYear
Characterization of the N370S mutant of glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
    Chembiochem : a European journal of chemical biology, 2012, Oct-15, Volume: 13, Issue:15

    Topics: Amino Acid Substitution; Deuterium; Gaucher Disease; Glucosylceramidase; Humans; Hydrogen; Imino Pyr

2012