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  • Urea Cycle Disorder

    • Showing results 1 to 10 from more than 300,000 results:

    Urea Cycle Disorder: Top KOLs in the world

    Mark L Batshaw #1
    		Mark L Batshaw
    Children's National Hospital, Washington, DC, USA. | Childre
    Known for Ornithine Transcarbamylase | Hyperammonemic Coma | Inborn Errors | Urea Cycle Disorders | Gene Therapy
    Marshall L MD Summar #2
    		Marshall L MD Summar
    Children's National Hospital, Washington, DC, USA. | Rare Di
    Known for Inborn Errors | Diverse Populations | Urea Cycle Disorders | Pulmonary Hypertension | Propionic Acidemia

    Saul W Brusilow #3
    		Saul W Brusilow
    From the Department of Pediatrics (SWB), The Johns Hopkins U
    Known for Urea Synthesis | Cholera Toxin | Glutamine Synthetase | Hyperammonemic Coma | Inborn Errors
    Brendan H L Lee #4
    		Brendan H L Lee
    Department of Molecular and Human Genetics, Baylor College o
    Known for Gene Therapy | Marfan Syndrome | Glycerol Phenylbutyrate | Urea Cycle Disorders
    Mendel TUCHMAN #5
    		Mendel TUCHMAN
    Center for Genetic Medicine Research, Children’s Research In
    Known for Urea Cycle | Liver Transplantation | Crystal Structure | North America | Ornithine Transcarbamylase
    Carlo Dionisi‐Vici #6
    		Carlo Dionisi‐Vici
    Metabolic Diseases Unit, Bambino Gesù Children's Hospital IR
    Known for Vici Syndrome | Inborn Errors | Newborn Screening | Methylmalonic Aciduria | Urea Cycle Disorders
    Johannes Häberle #7
    		Johannes Häberle
    University Children’s Hospital Zurich and Children’s Researc
    Known for Mutation Analysis | Newborn Screening | Citrullinemia Type | Glutamine Synthetase | Urea Cycle Disorders
    Alberto Benedetto Burlina #8
    		Alberto Benedetto Burlina
    Division of Inherited Metabolic Diseases, Department of Diag
    Known for Newborn Screening | Inborn Errors | Urea Cycle Disorders | Fabry Disease | Lysosomal Origin
    Marc Yudkoff #9
    		Marc Yudkoff
    Division of Human Genetics, Department of Pediatrics, The Ch
    Known for Amino Acids | Nitric Oxide | Stable Isotopes | Isovaleric Acidemia | Gene Therapy
    James Vivian Leonard #10
    		James Vivian Leonard
    A Bagley Wood Road, Kennington, Oxford, OX1 5LY UK | Mitocho
    Known for Disease Type | European Study | Mitochondrial Dna | Inborn Errors | Glycogen Storage

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    Recently Asked Questions

    Esophageal Disorder Esophageal disorders are a broad category of conditions that can affect the esophagus, the muscular tube that carries food from the mouth to the stomach....

     

    Urea cycle disorder is a metabolic disorder that prevents the body from properly removing ammonia from the blood. Ammonia is a waste product produced by the...