Find Expert Doctors on Argininosuccinic Aciduria201 top medical experts on Argininosuccinic Aciduria across 28 countries and 10 U.S. states, including 32 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Argininosuccinic Aciduria: Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe hyperammonemia. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the argininosuccinate lyase gene cause the disorder.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Inborn Urea Cycle Disorders (1,187).
- Clinical Trials
: at least 6 including 2 Completed, 3 Recruiting - Synonyms: Arginino Succinase Deficiency
- Lee, Brendan Pediatrics
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Top HospitalDisclosed payments from biomedical company (BioMarin Pharmaceutical Inc.) in 2021 for $8,662.5Subjects: Nitric Oxide; Argininosuccinate Lyase; Arginine; Bone and Bones; Cell DifferentiationCategories: Metabolism; Genetics; Deficiency; Diagnosis; Drug Therapy; Therapeutic Use - Burrage, Lindsay C Pediatrics Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Top HospitalPhysician Clinical TrialSubjects: Argininosuccinate Lyase; Bone and Bones; Cell Differentiation; Endothelial Cells; GlycolysisCategories: Metabolism; Genetics; Pathology
- Pandey, Amit V Hospitalist Physician Highly PublishedSubjects: Argininosuccinate Lyase; Protein Isoforms; Genetic Variation; Mutation, MissenseCategories: Genetics; Chemistry
- Mitch, William E Nephrology PhysicianDisclosed payments from biomedical company (Aurinia Pharma U.S., Inc.) in 2021 for $52.17Subjects: Nitric Oxide; Argininosuccinate LyaseCategories: Metabolism; Biosynthesis; Deficiency
- Harrison, David G Cardiovascular Disease PhysicianDisclosed payments from biomedical company (Regeneron Pharmaceuticals, Inc.) in 2021 for $61.86Subjects: Nitric Oxide; Argininosuccinate LyaseCategories: Metabolism; Biosynthesis; Deficiency
- Lee, Brendan H Pediatrics Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: . Top HospitalPhysician Clinical TrialSubjects: Argininosuccinate Lyase; Endothelial Cells; HypertensionCategories: Genetics; Pathology
- Kölker, Stefan Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.Physician Highly PublishedSubjects: Urea Cycle Disorders, Inborn; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Citrullinemia; Genetic Predisposition to DiseaseCategories: Diagnosis; Genetics; Deficiency
- Grover, Monica Pediatric Endocrinology Department of Pediatric Endocrinology, Stanford School of Medicine, Stanford, California, USA.Physician Clinical TrialSubjects: Bone and Bones; Cell Differentiation; Glycolysis; Nitric Acid; OsteoblastsCategories: Metabolism
- Zhang, Yan Neurology Department of Laboratory Medicine, Childrens Hospital Boston, Boston, MA 02115, USA.Physician Case ReportsDisclosed payments in 2021 from 6 biomedical companies, totalling $1,092.64, including $900 from BANNER LIFE SCIENCES, LLCSubjects: Amino AcidsCategories: Blood; Diagnosis
- Zhang, Ping Internal Medicine Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX 77030, USA. Top HospitalPhysician Clinical TrialSubjects: Argininosuccinate Lyase; Endothelial Cells; HypertensionCategories: Genetics; Pathology
- Turner, Dustin L Family Medicine Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Top HospitalPhysician Clinical TrialSubjects: Bone and Bones; Cell Differentiation; Glycolysis; Nitric Acid; OsteoblastsCategories: Metabolism
- Feig, Daniel I Pediatric Nephrology PhysicianDisclosed payments in 2021 from 3 biomedical companies, totalling $5,147.52, including $5,130 from Alnylam Pharmaceuticals Inc.Subjects: Nitric Oxide; Genetic TherapyCategories: Deficiency; Drug Therapy; Pharmacology; Physiopathology
- Kim, Jean J Surgery Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX 77030, USA. Top HospitalPhysician Clinical TrialSubjects: Argininosuccinate Lyase; Endothelial Cells; HypertensionCategories: Genetics; Pathology
- Gissen, Paul Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.PhysicianSubjects: Argininosuccinate LyaseCategories: Metabolism; Therapy; Pathology
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