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National Urea Cycle Disorders Foundation | Researchclopedia

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National Urea Cycle Disorders Foundation

Pasadena, Californianonprofit

26

Works

1,248

Citations

19

h-index

Top Research Topics

Metabolism and Genetic Disorders Diet and metabolism studies Biochemical and Molecular Research

Top Researchers

Jan Bartoš Forestry and Game Management Research Institute

196 works9,155 citationsh-index: 37

Recent Research

Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders

Uta Lichter‐Konecki,Jacqueline H. Sanz,et al.

20236 citations

Mitochondrial Function and Pathology

Folate and B Vitamins Research

Muscle metabolism and nutrition

Amino Acid Enzymes and Metabolism

Metabolomics and Mass Spectrometry Studies

Optical Imaging and Spectroscopy Techniques

Childhood Cancer Survivors' Quality of Life

Neonatal and fetal brain pathology

Genomics and Rare Diseases

Julie A. Cederbaum University of Southern California

151 works2,568 citationsh-index: 30

Stephen D. Cederbaum

49 works2,156 citationsh-index: 24

Mary Ahrens University of Minnesota

11 works563 citationsh-index: 8

Cynthia Le Mons National Urea Cycle Disorders Foundation

16 works541 citationsh-index: 9

Cynthia LeMons National Urea Cycle Disorders Foundation

15 works457 citationsh-index: 10

Barriers to a successful healthcare transition for individuals with urea cycle disorders

Farah A. Ladha,Cynthia Le Mons,et al.

20231 citations

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Runjun D. Kumar,Lindsay C. Burrage,et al.

202111 citations

Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

Afrouz Anderson,Andrea Gropman,et al.

20206 citations

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Roland Posset,Sven F. Garbade,et al.

202019 citations

Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency

Afrouz Anderson,Andrea Gropman,et al.

202019 citations