30 closest matches · ranked by relevance
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Primary: Glucose Disposal Rate (Rd)- the Rate of Glucose Infusion to Maintain Euglycemia During Steady State Insulin Infusion in mg/Min — 709; 429; 842; 497 mg/min — p=0.136
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Carnitine Palmitoyltransferase 2 Deficiency
Primary: Energy Expenditure — 2045; 2343 kcal
Bile Acid Synthesis Defect · Inborn Error of Bile Acid Metabolism · Inborn Error of Bile Acid Conjugation
Primary: Conjugated Cholic Acid (GCA) for the Treatment of Inborn Errors in Bile Acid Synthesis Involving Side-chain Conjugation. — 5 Participants
Gestational Diabetes · Hyperlipidemia
Primary: Cholesterol — 204; 201 mg/dl
Bile Acid Synthesis Defect
Primary: Change in Atypical Urinary Bile Acid Excretion by FAB-MS (Fast-Atom-Bombardment Ionization-Mass Spectrometry) — 25; 6; 10; 10 Participants
HIV Lipodystrophy
Primary: Rate of Total Lipolysis — 0.649; 0.767 mmol FFA/kg/h
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Overall Survival — 120; 92; 81 Participants
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency · Carnitine Palmitoyltransferase 2 (CPT2) Deficiency · Mitochondrial Trifunctional Protein (TFP) Deficiency
Primary: Energy Expenditure — -73; 107 kcal/day
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Smith-Lemli-Opitz Syndrome
Primary: Number of Responders — 18 Participants
Hyperlipoproteinemia Type I · Hypertriglyceridemia
Primary: Fasting Serum Triglycerides — 705; 1827; 1511; 1007 mg/dL
Infantile Refsum's Disease · Zellweger Syndrome · Adrenoleukodystrophy
Primary: Number of Participants With Excretion of Atypical Bile Acids in Urine by Category — 10; 51; 11; 9 Participants
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Lipodystrophy
Primary: Change in Log 10 Fasting Triglycerides. — 0.1; -0.2 log 10 mg/dl
Glucose Transporter Type 1 Deficiency Syndrome · GLUT1 Deficiency Syndrome
Primary: Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time — 13 Participants
Type 2 Diabetes · Obesity
Primary: Insulin Sensitivity — 8 m value — p=<0.05
Chronic Pancreatitis
Primary: Malabsorption Blood Test: Difference in Mean HA AUC Between Groups: Subjects With CP Compared to Healthy Subjects — 8.3; 17.7 mg*h/dL — p=<0.001
Parenteral Nutrition Associated Cholestasis
Primary: Number of Participants With Parenteral Nutrition Associated Cholestasis — 6; 6 Participants — p=0.94
Cholestasis of Parenteral Nutrition
Primary: Number of Participants With Cholestasis — 1; 3; 7 Participants — p=0.590
Hepatic Steatosis
Primary: Hepatic Triglyceride (%) — 15.9; 14.8 Fat/Fat+Water (%) — p=0.42
Metabolic Syndrome
Primary: Change in Hepatic Lipogenesis — 5.6 abs percent change fasting lipogenesis
Familial Partial Lipodystrophy
Primary: Change in the Liver Triglycerides (TG). — 13.2; 6.4; 12.3; 10.6 percentage of liver triglycerides
Insulin Resistance · Diabetes · Obesity
Primary: Body Composition — 39; 39; 37; 39 percentage
Smith-Lemli-Opitz Syndrome
Primary: Serum Cholesterol to Total Sterol Ratio — 90.82; 93.99 percent total cholesterol — p=0.002
Sepsis, Severe · Septic Shock
Primary: Phase II - Primary Outcome - Change in Total Cholesterol (48 Hours - Enrollment) — 9; -10; 4; 2 mg/dL
Trifunctional Protein Deficiency
Primary: An Outcome of This Study is the Difference in Percent Body Fat (%BF) Between Subjects With a Long-chain Fatty Acid Oxidation Disorder and Normal Controls. — 31.8; 27.2…
Hypoleptinemia · Generalized Lipodystrophy · Partial Lipodystrophy
Primary: Fasting Serum Triglycerides — 203; 304 mg/dL — p=0.2572
Mitochondrial Disease · Neurology · Myopathy
Primary: Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, Baseline — 23.9; 20.4 Units on a scale
Familial Partial Lipodystrophy · Hypertriglyceridemia · Fatty Liver
Primary: Change in Fasting Serum Triglyceride (at 12 Weeks) — -0.44; -20.27 percent change — p=0.517
Pediatric Obesity · Insulin Resistance
Primary: Palatability of the High Fat Agent. — 13 Participants — p=0.15