Urea Cycle Disorder

Urea Cycle Disorder top experts.

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Showing results 1 to 50 from more than 200,000 results:

Urea Cycle Disorder: Top KOLs in the world

World Rank

Name

Topic

PersonRank Score help

Diego Martinelli
Division of Metabolism, Department of Pediatrics Specialties

Also Ranks for:
Urea Cycle Disorders
Leigh Syndrome
Organic Acidurias
Inborn Errors
phenotypic spectrum

Urea Cycle Disorder

2066

Cary O Harding
Department of Medical and Molecular Genetics, Oregon Health

Also Ranks for:
Urea Cycle Disorders
Glycerol Phenylbutyrate
Phenylalanine Hydroxylase
Trifunctional Protein
inborn errors

Urea Cycle Disorder

2020

Mark L Batshaw
Children's National Hospital, Washington, DC, USA. | Childre

Also Ranks for:
Ornithine Transcarbamylase
Hyperammonemic Coma
Inborn Errors
Urea Cycle Disorders
gene therapy

Urea Cycle Disorder

1200

Daniela ****** (Reveal full name)
Department für Kinder- und Jugendheilkunde, Klinik für Pädia

Also Ranks for:
Urea Cycle Disorders
Organic Acidurias
Amino Acid
Breast Milk

Urea Cycle Disorder

Reveal score

Dries ********** (Reveal full name)
Medical Reference Center for Inherited Metabolic Diseases, J

Also Ranks for:
Urea Cycle Disorders
Organic Acidurias
Vertebral Fractures
Inborn Errors
gaucher disease

Urea Cycle Disorder

Reveal score

Alberto ********* ******* (Reveal full name)
Division of Inherited Metabolic Diseases, Department of Diag

Also Ranks for:
Newborn Screening
Inborn Errors
Urea Cycle Disorders
Fabry Disease
lysosomal origin

Urea Cycle Disorder

Reveal score

Marshall * ** ****** (Reveal full name)
Children's National Hospital, Washington, DC, USA. | Rare Di

Also Ranks for:
Inborn Errors
Diverse Populations
Urea Cycle Disorders
Pulmonary Hypertension
propionic acidemia

Urea Cycle Disorder

Reveal score

Matthias * *********** (Reveal full name)
Division of Metabolism and Children's Research Center, Unive

Also Ranks for:
Urea Cycle Disorders
Methylmalonic Acid
Vitamin B12
Newborn Screening

Urea Cycle Disorder

Reveal score

Carlo ************ (Reveal full name)
Metabolic Diseases Unit, Bambino Gesù Children's Hospital IR

Also Ranks for:
Vici Syndrome
Inborn Errors
Newborn Screening
Methylmalonic Aciduria
urea cycle disorders

Urea Cycle Disorder

Reveal score

#10

Pablo ******** ****** (Reveal full name)
Division of Pediatric Metabolism, Cruces Children Hospital,

Also Ranks for:
Urea Cycle Disorders
Metabolic Syndrome
Fatty Acids
Inborn Errors
offspring brain

Urea Cycle Disorder

Reveal score

#11

Peter ******* (Reveal full name)
Center for Child and Adolescent Medicine and Center for Rare

Also Ranks for:
Urea Cycle Disorders
Inborn Errors
Newborn Screening
Organic Acidurias
glutaric aciduria type

Urea Cycle Disorder

Reveal score

#12

Anupam * ********** (Reveal full name)
Department of Metabolic Medicine, Great Ormond Street Hospit

Also Ranks for:
Newborn Screening
Carglumic Acid
Urea Cycle Disorders
Gaucher Disease
protein substitute

Urea Cycle Disorder

Reveal score

#13

Brendan * * *** (Reveal full name)
Department of Molecular and Human Genetics, Baylor College o

Also Ranks for:
Gene Therapy
Marfan Syndrome
Glycerol Phenylbutyrate
Urea Cycle Disorders

Urea Cycle Disorder

Reveal score

#14

William * ***** (Reveal full name)
Medical College of Wisconsin, Milwaukee, WI, USA. | Medical

Also Ranks for:
Inborn Errors
Chain Acyl
Newborn Screening
Urea Cycle Disorders
glycerol phenylbutyrate

Urea Cycle Disorder

Reveal score

#15

Johannes ******** (Reveal full name)
University Children’s Hospital Zurich and Children’s Researc

Also Ranks for:
Mutation Analysis
Newborn Screening
Citrullinemia Type
Glutamine Synthetase
urea cycle disorders

Urea Cycle Disorder

Reveal score

#16

Shawn * ********** (Reveal full name)
Department of Pediatrics, University of Colorado School of M

Also Ranks for:
Ammonia Control
Hyperammonemic Crises
Urea Cycle Disorders
Glycerol Phenylbutyrate
newborn screening

Urea Cycle Disorder

Reveal score

#17

Cynthia ** **** (Reveal full name)
National Urea Cycle Disorders Foundation, Pasadena, Californ

Also Ranks for:
Prefrontal Cortex
Neurocognitive Function
Glycerol Phenylbutyrate
Calorie Intake
urea cycle disorders

Urea Cycle Disorder

Reveal score

#18

Saul * ******** (Reveal full name)
From the Department of Pediatrics (SWB), The Johns Hopkins U

Also Ranks for:
Urea Synthesis
Cholera Toxin
Glutamine Synthetase
Hyperammonemic Coma
inborn errors

Urea Cycle Disorder

Reveal score

#19

George * **** (Reveal full name)
Mount Sinai School of Medicine, New York City, NY, USA | Mou

Also Ranks for:
Ammonia Control
Oxidative Stress
Olipudase Alfa
Glycerol Phenylbutyrate
urea cycle disorders

Urea Cycle Disorder

Reveal score

#20

Sandesh ************ ******** ******** (Reveal full name)
Department of Molecular and Human Genetics, Baylor College o

Also Ranks for:
Argininosuccinate Lyase
Argininosuccinic Aciduria
Liver Disease
Osteogenesis Imperfecta
urea cycle disorders

Urea Cycle Disorder

Reveal score

#21

Marjorie * ***** (Reveal full name)
Dietetics, Great Ormond Street Hospital for Children NHS Fou

Also Ranks for:
Glutaric Aciduria Type
Propionate Metabolism
Organic Acidaemias
Urea Cycle Disorders
dietary management

Urea Cycle Disorder

Reveal score

#22

Uta *************** (Reveal full name)
Division of Genetic and Genomic Medicine, UPMC Children's Ho

Also Ranks for:
Phenylalanine Hydroxylase
Inborn Errors
Ammonia Control
Urea Cycle Disorders
glycerol phenylbutyrate

Urea Cycle Disorder

Reveal score

#23

Andrea * ******* (Reveal full name)
Division of Neurogenetics and Neurodevelopmental Pediatrics,

Also Ranks for:
Inborn Errors
Mitochondrial Disease
Propionic Acidemia
Muenke Syndrome
urea cycle disorders

Urea Cycle Disorder

Reveal score

#24

Susan * ***** (Reveal full name)
Department of Pediatrics, Division of Genetics and Metabolis

Also Ranks for:
Inborn Errors
Glycerol Phenylbutyrate
Newborn Screening
Growth Hormone
urea cycle disorders

Urea Cycle Disorder

Reveal score

#25

Stefan ******* (Reveal full name)
Division of Child Neurology and Metabolic Medicine, Center f

Also Ranks for:
Coa Dehydrogenase
Glutaric Aciduria Type
Newborn Screening
Methylmalonic Acid
urea cycle disorders

Urea Cycle Disorder

Reveal score

#26

Mendel ******* (Reveal full name)
Center for Genetic Medicine Research, Children’s Research In

Also Ranks for:
Urea Cycle
Liver Transplantation
Crystal Structure
North America
ornithine transcarbamylase

Urea Cycle Disorder

Reveal score

#27

Marc ******* (Reveal full name)
Division of Human Genetics, Department of Pediatrics, The Ch

Also Ranks for:
Amino Acids
Nitric Oxide
Stable Isotopes
Isovaleric Acidemia
gene therapy

Urea Cycle Disorder

Reveal score

#28

James ****** ******* (Reveal full name)
A Bagley Wood Road, Kennington, Oxford, OX1 5LY UK | Mitocho

Also Ranks for:
Disease Type
European Study
Mitochondrial Dna
Inborn Errors
glycogen storage

Urea Cycle Disorder

Reveal score

#29

Stephen * ********* (Reveal full name)
Semel Institute for Neuroscience, David Geffen School of Med

Also Ranks for:
Urea Cycle
Inborn Errors
United States
Arginase Deficiency
newborn screening

Urea Cycle Disorder

Reveal score

#30

Vicente ***** (Reveal full name)
Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, S

Also Ranks for:
Escherichia Coli
Carboxyl Acceptor
Ornithine Transcarbamylase
Carbamate Kinase
carbamoyl phosphate

Urea Cycle Disorder

Reveal score

#31

Martin ******* (Reveal full name)
Division of Paediatric Neurology, University Children’s Hosp

Also Ranks for:
Inborn Errors
Southwest Germany
Visual Functions
Newborn Screening
glutaric aciduria type

Urea Cycle Disorder

Reveal score

#32

René ****** (Reveal full name)
Department of Pediatrics, University Medical Center Hamburg-

Also Ranks for:
Newborn Screening
Fructose Metabolism
Inborn Errors
Blood Spots
cln2 disease

Urea Cycle Disorder

Reveal score

#33

Martina ****** (Reveal full name)
Division of Metabolism and Children's Research Center Univer

Also Ranks for:
Inborn Errors
Pompe Disease
Mthfr Deficiency
Newborn Screening
folic acid supplementation

Urea Cycle Disorder

Reveal score

#34

Hye‐Seung *** (Reveal full name)
Department of Pediatrics, University of South Florida, Tampa

Also Ranks for:
Type 1 Diabetes
Islet Autoimmunity
United States
Celiac Disease
rett syndrome

Urea Cycle Disorder

Reveal score

#35

Vassili *************** (Reveal full name)
Necker-Enfants Malades University Hospital and IMAGINE Insti

Also Ranks for:
Transaldolase Deficiency
Carglumic Acid
Congenital Hyperinsulinism
Hip Dysplasia
sebelipase alfa

Urea Cycle Disorder

Reveal score

#36

Aude ******* (Reveal full name)
Necker Hospital, Assistance Publique – Hôpitaux de Paris, Re

Also Ranks for:
Nephropathic Cystinosis
Renal Transplantation
Preemptive Rituximab
Interstitial Fibrosis
metabolic syndrome

Urea Cycle Disorder

Reveal score

#37

Nancy * ******* (Reveal full name)
Department of Pediatrics, School of Medicine, Johns Hopkins

Also Ranks for:
Tgfa Genotype
Familial Aggregation
Etiologic Heterogeneity
Maternal Smoking
cleft palate

Urea Cycle Disorder

Reveal score

#38

Daniel * ****** (Reveal full name)
Laboratoire de Biochimie B, Hôpital Necker Enfants Malades,

Also Ranks for:
Inborn Errors
Liver Transplantation
Amino Acids
Amniotic Fluid
prenatal diagnosis

Urea Cycle Disorder

Reveal score

#39

William * ******* (Reveal full name)
1From the US Department of Agriculture/Agricultural Research

Also Ranks for:
Nitric Oxide
Dna Analysis
Argininosuccinate Synthetase
Prenatal Diagnosis
cystic fibrosis

Urea Cycle Disorder

Reveal score

#40

Douglas * **** (Reveal full name)
Department of Pediatrics, Case Western Reserve University, C

Also Ranks for:
Lactic Acidosis
Glucose Production
Dicarboxylic Aciduria
Mitochondrial Disorders
pyruvate dehydrogenase

Urea Cycle Disorder

Reveal score

#41

Jean‐Marie ********* (Reveal full name)
Groupe de Recherche Clinique Neurométabolique, Université Pi

Also Ranks for:
Prenatal Diagnosis
Clinical Approach
Phytanic Acid
Inborn Errors
peroxisomal disorders

Urea Cycle Disorder

Reveal score

#42

Claude ******** (Reveal full name)
Laboratoire Central de Chimie Clinique, Centre Hospitalier U

Also Ranks for:
Serum Lipoproteins
Amino Acids
Portacaval Shunt
Urea Cycle
biotinidase deficiency

Urea Cycle Disorder

Reveal score

#43

Ichiro ******* (Reveal full name)
Health Sciences University of Hokkaido, Hokkaido, Japan | Na

Also Ranks for:
Ornithine Transcarbamylase
Prolidase Deficiency
Amino Acid
Congenital Insensitivity
nerve growth factor

Urea Cycle Disorder

Reveal score

#44

Robert * ******** (Reveal full name)
Children’s National Medical Center, Bioinformatics, Washingt

Also Ranks for:
Heart Disease
Biological Variation
Trauma Patients
Young Children
hot flashes

Urea Cycle Disorder

Reveal score

#45

Gerard ****** ***** (Reveal full name)
Boston Children’s Hospital, Boston, MA | Boston Children's H

Also Ranks for:
Galactose Metabolism
Newborn Screening
Lung Transplantation
Congenital Disorders

Urea Cycle Disorder

Reveal score

#46

Fumio **** (Reveal full name)
Kumamoto-Ezuko Medical Center for Disabled Children, Kumamot

Also Ranks for:
Prolidase Deficiency
Amino Acid
Liver Transplantation
Tyrosinemia Type
fabry disease

Urea Cycle Disorder

Reveal score

#47

Gregory * **** (Reveal full name)
Stanford University, Division of Medical Genetics, Palo Alto

Also Ranks for:
Inborn Errors
Methylmalonic Acidemia
Mitochondrial Disease
Newborn Screening
liver transplantation

Urea Cycle Disorder

Reveal score

#48

Guy ****** (Reveal full name)
Centre de Référence Maladies Métaboliques, CHU Toulouse, Tou

Also Ranks for:
Inborn Errors
Congenital Hyperinsulinism
Lactic Acidosis
Juvenile Chronic Arthritis
methylmalonic aciduria

Urea Cycle Disorder

Reveal score

#49

Nathalie ******** (Reveal full name)
Département de radiologie pédiatrique, INSERM UMR 1163 and I

Also Ranks for:
Magnetic Resonance
Social Perception
Brain Mri
Superior Temporal Sulcus
child preschool

Urea Cycle Disorder

Reveal score

#50

Michael ***** (Reveal full name)
The Department of Pediatrics and the John F. Kennedy Institu

Also Ranks for:
Cognitive Development
Inborn Errors
Urea Synthesis
Ornithine Transcarbamylase
neurologic outcome

Urea Cycle Disorder

Reveal score

Recently Asked Questions

Urea Cycle Disorder

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...