hydrogen and Smith-Lemli-Opitz Syndrome

hydrogen has been researched along with Smith-Lemli-Opitz Syndrome 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.

Smith-Lemli-Opitz Syndrome: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

Research

Studies (1)

Authors

Clinical Trials (1)

Trial Overview

Trial Outcomes

Number of Growth Responders

Growth response was defined as an increase in general health, growth, and behavior. (NCT00272844)
Timeframe: Every 3-6 months for an approximate median of 5 years

Number of Participants With Improved Neuropsychological Development

Improved neuropsychological development is defined as progressively achieving developmental milestones (NCT00272844)
Timeframe: Every 3-6 months for an approximate median of 5 years

Number of Responders

Responders was defined as an increase in total serum cholesterol and a decrease in 7-DHC (7-Dehydrocholesterol), and 8-DHC (8-Dehydrocholesterol) were measured on all participants. (NCT00272844)
Timeframe: Every 3-6 months for an approximate median of 5 years

Other Studies

1 other study available for hydrogen and Smith-Lemli-Opitz Syndrome