25 closest matches · ranked by relevance
Familial Hyperlipidemia
Primary: Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant — 3; 8 participants
Hereditary Haemorrhagic Telangiectasia (HHT)
Primary: Number of Participants That Achieving Personal Recommended Intake of Iron — 43 Participants
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Hereditary Haemorrhagic Telangiectasia
Primary: HHT Patients Who by the Questionnaire Did or Did Not Self Report a Medical Complication During Flight — 77 percentage of patients
Colorectal Cancer
Primary: Number of Patients With Provider Referral for Risk-appropriate Colorectal Cancer Screening — 219; 232 Participants — p=0.16
Von Hippel-Lindau Disease
Primary: Number of Patients With Pancreatic Lesions Defined by Simple Cysts, Microcystic Adenomas, Neuroendocrine Tumors & Other Solid Lesions of the Pancreas Who Had Significant…
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Hereditary Angioedema · Angioneurotic Edema · Genetic Disorders
Primary: Time to Beginning of Relief of Symptoms — 62; 508; 61 minutes — p=0.003
Congenital Heart Disease
Primary: To Evaluate the Incidence of the Pre-proendothelin SNP at Nucleotide 5665 — 10 participants
Homozygous Familial Hypercholesterolemia
Primary: Number of LDLR Gene Mutations — 7 gene mutations
Congenital Sucrase-isomaltase Deficiency (CSID)
Primary: Prevalence of CSID Genetic Variants — 27; 0 Participants
Respiratory Distress Syndrome, Newborn
Primary: Mortality — 5; 3; 5 Participants
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
Diabetes · Heart Disease · Cancer
Primary: Number of Participants With Uptake of Genetic Counseling for Those at Risk of Hereditary Conditions at 1 Year — 571; 49; 32; 31 Participants
Hereditary Angioedema · Angioneurotic Edema
Primary: Time to Beginning of Relief of Symptoms — 68; 122; 258; 62.5 minutes — p=0.001
Colorectal Cancer · Breast Cancer · Coronary Heart Disease
Primary: Number of Subjects Who Discussed Disease Risk With Primary Care Provider — 905; 841 Participants
Gingival Bleeding · Von Willebrand Diseases
Primary: Bleeding on Probing (BOP) — 14.5; 12.3 percentage of sites
Sickle Cell Trait
Primary: Acceptability — 11; 8; 11; 8 Participants
Kinky Hair Syndrome
Primary: Gross Motor Development at 36 Mos of Age or at Death (Mos) — 13.743; 2.455; 15.667 Other - months
Coronary Heart Disease, Susceptibility to, 5 · Prediabetic State
Primary: Dietary Intake as Measured by Percent Energy From Fat — 33.75; 34.9; 33.72; 35.05 percent energy from fat — p=0.1073
Hypertension · Chronic Kidney Disease · Genomics
Primary: Number of Participants With Urine Protein Excretion — 33; 278; 39; 50 Participants
Genetic Disorders
Primary: Number of Patients That Receive Carrier Testing and Have Results to Return — 9; 155 Participants
Atopic Dermatitis · Ichthyosis Vulgaris
Primary: Heterozygous for Filaggrin (FLG) Null Mutations — 1; 4 participants
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
Blood Platelet Disorders
Primary: Response to Drug Based on Platelet Count at the End of Therapy — 91.6 percentage of participants