225 top medical experts on Citrullinemia across 26 countries and 10 U.S. states, including 54 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Citrullinemia: A group of diseases related to a deficiency of the enzyme argininosuccinate synthase which causes an elevation of serum levels of citrulline. In neonates, clinical manifestations include lethargy, hypotonia, and seizures. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ataxia, behavioral changes, and dysarthria. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Urea Cycle Disorders (1,187).
  4. Clinical Trials ClinicalTrials.gov : at least 7 including 2 Completed, 2 Recruiting
  5. Synonyms: ASS Deficiency,  Argininosuccinate Synthase Deficiency Disease,  Argininosuccinate Synthetase Deficiency,  Argininosuccinic Acid Synthetase Deficiency,  Citrullinemia 1,  Citrullinemia Type 1,  Classic Citrullinemia,  Argininosuccinate Synthase Deficiency Disease,  Argininosuccinic Acid Synthase Deficiency Disease


  

        

                    


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  1. Love, Donald R   Cardiovascular Disease  Google Publications
    Physician 
    Medical school: University of Massachusetts Medical School (MD, 1987)
    Medicare Accepted
    Disclosed payments in 2021 from 17 biomedical companies, totalling $954.45, including $768.14 from  Medtronic, Inc.
    Subjects: Argininosuccinate Synthase; DNA Mutational Analysis; Mutation
    Categories: Genetics; Diagnosis; Classification; Methods
    Citrullinaemia type I: a common mutation in the Pacific Island population. (2011)
    Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. (2010)

  2. Rockey, Don C   Hepatology  Google Publications
    Department of Internal Medicine, Medical University of South Carolina, Charleston, SC.
    Physician  Case Reports 
    Medical school: Other (MD, 1984)
    Medicare Accepted
    Disclosed payments in 2021 from 2 biomedical companies, totalling $7,500, including $6,000 from  Novo Nordisk Inc
    Subjects: Liver Failure, Acute; Pregnancy Complications
    Categories: Diagnosis
    A Faux Case of Acute Liver Failure in a 28-Year-Old Pregnant Woman. (2018)

  3. Hackshaw, Allan  Google Publications
    Cancer Research UK and UCL Cancer Trials Center, University College London, London, England.
    Scientist  Clinical Trial 
    Subjects: Argininosuccinate Synthase; Biomarkers, Tumor; Hydrolases; Lung Neoplasms; Mesothelioma
    Categories: Drug Therapy; Administration & Dosage; Blood
    Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1-Deficient Malignant Pleural Mesothelioma: A Randomized Clinical Trial. (2017)

  4. Szlosarek, Peter W  Google Publications
    Center for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Center, London, England2Barts Health NHS Trust, St Bartholomews Hospital, London, England.
    Scientist  Clinical Trial 
    Subjects: Argininosuccinate Synthase; Biomarkers, Tumor; Hydrolases; Lung Neoplasms; Mesothelioma
    Categories: Drug Therapy; Administration & Dosage; Blood
    Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1-Deficient Malignant Pleural Mesothelioma: A Randomized Clinical Trial. (2017)

  5. Randall, Morgan H  Google Publications
    Department of Internal Medicine, Medical University of South Carolina, Charleston, SC.
    Scientist  Case Reports 
    Subjects: Liver Failure, Acute; Pregnancy Complications
    Categories: Diagnosis
    A Faux Case of Acute Liver Failure in a 28-Year-Old Pregnant Woman. (2018)

  6. Avril, Norbert E   Nuclear Medicine  Google Publications
    Cleveland Clinic, Cleveland, Ohio.
    Physician  Clinical Trial 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 88/100
    Disclosed payments in 2021 from 4 biomedical companies, totalling $2,011.01, including $1,884 from  Amgen Inc.
    Subjects: Argininosuccinate Synthase; Biomarkers, Tumor; Hydrolases; Lung Neoplasms; Mesothelioma
    Categories: Drug Therapy; Administration & Dosage; Blood
    Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1-Deficient Malignant Pleural Mesothelioma: A Randomized Clinical Trial. (2017)

  7. Saheki, Takeyori   Google Publications
    Department of Hygiene and Health Promotion Medicine, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Mitochondrial Membrane Transport Proteins; Calcium-Binding Proteins; Mutation; Organic Anion Transporters; Arginine
    Categories: Metabolism; Genetics; Deficiency; Administration & Dosage; Diet Therapy; Therapeutic Use
    mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency. (2019)
    Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. (2012)

  8. Miller, Marcus J   Surgery  Google Publications
    Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Top Hospital
    Physician 
    Medical school: Wright State University Boonshoft School of Medicine (MD, 1998)
    Medicare Accepted
    Disclosed payments in 2021 from 10 biomedical companies, totalling $685.88, including $533.97 from  W. L. Gore & Associates, Inc.
    Subjects: Prenatal Diagnosis
    Categories: Diagnosis; Genetics; Methods; Standards
    Improved standards for prenatal diagnosis of citrullinemia. (2014)

  9. Cao, Jingsong  Google Publications
    Moderna, Inc., Cambridge, MA, USA.
    Scientist 
    Subjects: Mitochondrial Membrane Transport Proteins; Drug Delivery Systems; Genetic Therapy; RNA, Messenger
    Categories: Metabolism; Methods; Drug Therapy; Genetics; Therapeutic Use
    mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency. (2019)

  10. Martini, Paolo G V   Google Publications
    Moderna, Inc., Cambridge, MA, USA. Electronic address: .
    Scientist 
    Subjects: Mitochondrial Membrane Transport Proteins; Drug Delivery Systems; Genetic Therapy; RNA, Messenger
    Categories: Metabolism; Methods; Drug Therapy; Genetics; Therapeutic Use
    mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency. (2019)

  11. Kok, Cindy Y  Google Publications
    Gene Therapy Research Unit, Childrens Medical Research Institute and The Childrens Hospital at Westmead, Sydney, Australia.
    Scientist 
    Subjects: Argininosuccinate Synthase; Dependovirus; Genetic Therapy; Genetic Vectors
    Categories: Genetics; Methods; Therapy
    Adeno-associated virus-mediated rescue of neonatal lethality in argininosuccinate synthetase-deficient mice. (2013)

  12. Chen, Ching-Hsien   Google Publications
    Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, University of California, Davis, Davis, CA, USA; Division of Nephrology, Department of Internal Medicine, University of California, Davis, Davis, CA 95616, USA. Electronic address: . Top Hospital
    Scientist 
    Subjects: Argininosuccinate Synthase; Proto-Oncogene Proteins c-met; Pulmonary Fibrosis; STAT3 Transcription Factor
    Categories: Genetics; Therapy
    Therapeutic targeting of argininosuccinate synthase 1 (ASS1)-deficient pulmonary fibrosis. (2021)

  13. Li, Ji-Min  Google Publications
    Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, University of California, Davis, Davis, CA, USA; Division of Nephrology, Department of Internal Medicine, University of California, Davis, Davis, CA 95616, USA. Top Hospital
    Scientist 
    Subjects: Argininosuccinate Synthase; Proto-Oncogene Proteins c-met; Pulmonary Fibrosis; STAT3 Transcription Factor
    Categories: Genetics; Therapy
    Therapeutic targeting of argininosuccinate synthase 1 (ASS1)-deficient pulmonary fibrosis. (2021)

  14. Hayasaka, Kiyoshi   Google Publications
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
    Scientist  Highly Published  Case Reports 
    Subjects: Triglycerides; Calcium-Binding Proteins; Organic Anion Transporters; Carbohydrates; Diabetes Mellitus, Type 2
    Categories: Diet Therapy; Administration & Dosage; Complications; Deficiency; Drug Therapy; Etiology
    Metabolic basis and treatment of citrin deficiency. (2021)
    Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia. (2018)

  15. Hu, Xiyuan  Google Publications
    Department of Biochemistry and Molecular Biology, Hunan Province Key Laboratory of Basic and Applied Hematology, Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Xiangya School of Medicine, Central South University, Changsha, China.
    Scientist 
    Subjects: Argininosuccinate Synthase; Breast Neoplasms; Enzyme Activators; Macrolides; Tumor Suppressor Proteins
    Categories: Drug Therapy; Pharmacology; Agonists; Metabolism
    Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor. (2021)

  16. Luo, Zhiyong   Google Publications
    Department of Biochemistry and Molecular Biology, Hunan Province Key Laboratory of Basic and Applied Hematology, Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Xiangya School of Medicine, Central South University, Changsha, China. .
    Scientist 
    Subjects: Argininosuccinate Synthase; Breast Neoplasms; Enzyme Activators; Macrolides; Tumor Suppressor Proteins
    Categories: Drug Therapy; Pharmacology; Agonists; Metabolism
    Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor. (2021)

  17. Perez, Carlos J   Family Medicine  Google Publications
    Department of Carcinogenesis, The University of Texas MD Anderson Cancer Center, Smithville, Texas 78957, USA.
    Physician 
    Disclosed payments from biomedical company (Sunovion Pharmaceuticals Inc.) in 2021 for $25.16
    Subjects: Argininosuccinate Synthase; Disease Models, Animal; Hyperammonemia; Mutation, Missense
    Categories: Etiology; Genetics; Physiology
    Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. (2010)

  18. Gilligan, David    Google Publications
    Cambridge University Hospitals NHS Foundation Trust, Addenbrookes Hospital, Cambridge, England.
    Physician  Clinical Trial 
    Subjects: Argininosuccinate Synthase; Biomarkers, Tumor; Hydrolases; Lung Neoplasms; Mesothelioma
    Categories: Drug Therapy; Administration & Dosage; Blood
    Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1-Deficient Malignant Pleural Mesothelioma: A Randomized Clinical Trial. (2017)

  19. Hillman, Paul    Google Publications
    Barts Health NHS Trust, St Bartholomews Hospital, London, England.
    Physician  Clinical Trial 
    Subjects: Argininosuccinate Synthase; Biomarkers, Tumor; Hydrolases; Lung Neoplasms; Mesothelioma
    Categories: Drug Therapy; Administration & Dosage; Blood
    Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1-Deficient Malignant Pleural Mesothelioma: A Randomized Clinical Trial. (2017)

  20. Häberle, Johannes  Google Publications
    Head Metabolic Laboratory, Division of Metabolism, University Childrens Hospital Zurich, Eleonore Foundation, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.
    Scientist  Highly Published  Case Reports 
    Subjects: Argininosuccinate Synthase; Mutation; Aspartic Acid; Brain Diseases; Citrulline
    Categories: Diagnosis; Genetics; Etiology; Therapeutic Use; Cerebrospinal Fluid; Deficiency
    Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. (2017)
    Transient fulminant liver failure as an initial presentation in citrullinemia type I. (2011)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
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These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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