30 closest matches · ranked by relevance
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
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Overall Survival — 120; 92; 81 Participants
Fibromyalgia · Mitochondrial Diseases · Movement Disorders
Primary: Heart Rate Variability (Time Domain) — 0.92; 0.83 msec/msec — p=0.77
Mitochondrial Disease · Neurology · Myopathy
Primary: Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, Baseline — 23.9; 20.4 Units on a scale
Mild Cognitive Impairment · Metabolic Syndrome
Primary: MoCA (Montreal Cognitive Assessment) — 28.38; 20.22 score on a scale — p=<0.0001
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
Mucopolysaccharidosis · Hurler Syndrome · Hunter Syndrome
Primary: Number of Patients With Donor Derived Engraftment — 42 Participants
Phenylketonuria
Primary: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood — 130; 137; 961 umol/L
Schizophrenia
Primary: Total Plasmalogen Levels in the Lipid Profile — 57.65; 59.57; 75 nmoles/gram — p=0.0149
Metabolic Syndrome
Primary: Blood Glucose Level — 6.05; 6.43; 4.58; 14.5 mmole/L
Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol — 2.61; 1.66; 2.23; 2.69 mM — p=0.001
Mitochondrial Diseases
Primary: Average TSST-induced Elevation in Cortisol — 37.44; 33.86; 42.83; 45.42 ng*min/mL
Obesity · Dysglycemia
Primary: Fasting and 2 Hour Glucose Levels, Comparing Baseline and 12 Weeks. — -5; 3; 7; -4 mg/dl
Metabolic Syndrome · Autonomic Neuropathy
Primary: Four Square Step Test (FSST) — 11.04; 14.29 seconds
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
Alzheimer's Disease · Vascular Dementia · Dementia
Primary: Word List Memory Total - ADAS-cog — 14.35; 14.7; 15.1; 14.67 Words recalled
Diabetes Mellitus, Type 2
Primary: Alterations in PKC-zeta mRNA in Vastus Lateralis Skeletal Muscles — 1.76; 3.58; 2.14; 2.22 arbitrary units/ng rRNA — p=.001
Healthy Aging · Alzheimer Disease
Primary: Fluorodeoxyglucose (FDG) Positron Emission Tomography (PET) Metabolism (Standard Uptake Value Ratio) — -0.0514; -0.0667 SUVR
Neurofibromatosis 1
Primary: Mitochondrial Respiration Efficiency (as Measured by OCR). — 67.7167; 53.7000; 73.3358; 68.5789 picomole/minute — p=<0.01
Frontal Lobe Hypometabolism
Primary: Global Change in Brain Glucose Uptake — 30.3; 30.4 μmol/100 g/min
Central Obesity · Hypertriglyceridemia
Primary: TG Plasma AUC — 1130; 1220 mmol/l*min — p=0.005
Alzheimer Disease · Neurodegenerative Diseases
Primary: Alpha-synuclein Levels From Nasal Swabs
Kinky Hair Syndrome
Primary: Gross Motor Development at 36 Mos of Age or at Death (Mos) — 13.743; 2.455; 15.667 Other - months
Down Syndrome · Trisomy 21
Primary: Non-HDL Cholesterol — 128; 107 mg/dl
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
Infantile Neronal Ceroid Lipofuscinosis
Primary: Change in Cellular Granular Osmiophilic Deposits (GRODs) in Electron Micrographs of Peripheral White Blood Cells. — -0.3317 Average number of GRODs
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale
Metabolic Syndrome
Primary: Sarcoplasmic Reticulum Composition — 2.0; 2.2 PC:PE ratio