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Search results: x Variables, w Analyses, x Documents, and z Datasets in x Studies
Clinical VariableDatasetVariable DescriptionVariable ID
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Peak PT level (25) [Baseline Assessment Form]phv00338943.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Past Hyperammonemic Events. Medical complications SNOMED code 48 (10) [Baseline Assessment Form]phv00337108.v1.p1
Subject ID, form name, form status, visit, visit age, changes since last visit, chronic medications, hyperammonemic event, list of other drugs used, other drugs, other treatment, and surgical procedures of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Visit [Drug and Other Treatment Form]phv00343666.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Biochemical and Diagnostic Testing. Albumin alt units (23) [Baseline Assessment Form]phv00338236.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Past Hyperammonemic Events. Coma Score: 4 (415) [Baseline Assessment Form]phv00340357.v1.p1
Subject ID, form name, form status, visit, visit age, Apgar score, behavior, education, early intervention services, educational diagnosis, gestational age, highest degree completed, liver transplant, living children, medical history by system details, neurodevelopmental milestones, psychiatric findings, participant pregnancy history, and reproductive system of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Reproductive System [Medical and Developmental History]phv00344794.v1.p1
Subject ID, form name, form status, visit, visit age, changes since last visit, chronic medications, hyperammonemic event, list of other drugs used, other drugs, other treatment, and surgical procedures of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Surgical Procedures, MRIs, and CT Scans. Other Treatment Description (17) [Drug and Other Treatment Form]phv00342959.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Biochemical and Diagnostic Testing. Arginine alt units (130) [Baseline Assessment Form]phv00337815.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Biochemical and Diagnostic Testing. Albumin (107) [Baseline Assessment Form]phv00339650.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Neuro Evaluation F: Reflex Abnormalities (34) [Baseline Assessment Form]phv00341041.v1.p1
Subject ID, form name, form status, visit, visit age, assessment, lab draw age, amino acid, alternate pathway medications, CBC, coagulation, electrolytes, hyperammonemic event, urine tests and other lab tests of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Amino A. ASA anhydride. Result in NEJM Units [Laboratory Form]phv00344373.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Biochemical and Diagnostic Testing. Citrulline (99) [Baseline Assessment Form]phv00335717.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Past Hyperammonemic Events. Medical complications SNOMED code 8 (5) [Baseline Assessment Form]phv00336822.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Past Hyperammonemic Events. Triggers In Week Pr: Infection (29) [Baseline Assessment Form]phv00341748.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Neurological Evaluation. SNOMED Output 51 (6) [Baseline Assessment Form]phv00337529.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Past Hyperammonemic Events. Medical complications SNOMED input 2 (6) [Baseline Assessment Form]phv00336424.v1.p1
Subject ID, form name, form status, visit, visit age, ADHD, ancillary developmental disabilities and psychiatric disorders, biochemical and diagnostic testing, diagnosis, growth chart, historical education information, medications taken chronically, medical history by system details, neurological evaluation, normal spontaneous vaginal delivery, onset, past hyperammonemic events, participant at birth: (at baseline visit only), psychological testing, treatment summary, and vaccine records of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Past Hyperammonemic Events. Glutamine level at presentation ug/dL (28) [Baseline Assessment Form]phv00335010.v1.p1
Subject ID, form name, form status, visit, visit age, enteral parenteral, assessment made, hyperammonemic event, liver transplant, nutritional information, participant sick, prescription, and validity ranges for nutritional assessment forms of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Validity Ranges for Nutritional assessment forms. Special Formula Amount (5) [Nutrient Data Form]phv00346892.v1.p1
Subject ID, form name, form status, visit, visit age, CBCL, executive function, ESPY tasks, intelligence, other, parent questionnaires, reasons for testing, and testing of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Parent Questionnaires. Adaptive Behavior Assessment System (ages 0-5). Conceptual Composite Parent Scaled [Neuropsychological Testing Form A (under 3 years)]phv00345080.v1.p1
Subject ID, form name, form status, visit, visit age, argininiosuccinic acid in blood or urine, enzyme activity in cultured skin fibroblasts, deficiency of argininosuccinic aciduria, pathogenic mutation in the AL, ARG, citrin, CPS, ORNT1, NAGS, OTC, and AS genes, arginine in blood, Arginase enzyme level in red blood cells, AS, CPS, ORNT, AL, ARG, AS, CPS I, NAGS, OTC, ARG, NAGS, UCD and CITR deficiency, biochemical evidence, hyperammonemia, CPS I, NAGS and OTC enzyme activity in liver, education, deceased ethnicity, deceased gender, deceased race, age at diagnosis, comorbidity details, hyperammonemia details, birth weight, gestational age, plasma ornithine, homocitrulline in urine, mitochondrial disorders, mutation, OTC pedigree analysis, treatment, treatment age, ornithine incorporation into protein in cultured fibroblasts, reference, residual enzyme activity, Down syndrome, HHH syndrome, glutamine value, and reported condition of participants with or without urea cycle disorders and involved in the \"Longitudinal Study of Urea Cycle Disorders\" project.
Hyperammonemia and first degree relative meets at least one of the criteria for CPS I deficiencyphv00344974.v1.p1
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