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  • KOLs
  • Urea Cycle Disorder

Urea Cycle Disorder



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

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

Recently Asked Questions

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...