13 closest matches · ranked by relevance
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
Cystinuria
Primary: Change in Cystine Capacity From Baseline — -63.6; 76; 53.4; 103.1 mg/L
Hyperhomocysteinemia · Obesity
Primary: Changes of Homocysteine Level — -0.68; -1.35 µmol/L — p=0.05
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Cystinuria
Primary: Cystine Capacity — 43.1 mg/L
Kinky Hair Syndrome
Primary: Gross Motor Development at 36 Mos of Age or at Death (Mos) — 13.743; 2.455; 15.667 Other - months
Brain Diseases, Metabolic, Inborn · Urea Cycle Disorder · Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol by MRS — 4.97; 3.66; 3.78; 4.50 mM — p=0.003
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
Maple Syrup Urine Disease
Primary: 0-24 Hour AUC Leucine (Samples Collected at 0, 2, 4, 8, 12, 16, 20, and 24 Hours) — 6217; 4616 micromoles*hour/L
Alkaptonuria
Primary: Homogentisic Acid Excretion — 1425.9; 113.1; 34.0 uM
BH4 Deficiency · Hyperphenylalaninemia
Primary: Number of Participants With Treatment-Emergent Adverse Events (TEAEs) — 2; 2; 4; 3 Participants
Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol — 2.61; 1.66; 2.23; 2.69 mM — p=0.001
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years