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Clinical and Translational Science
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April 29, 2026
The Placebo Effect in Rare Disease Clinical Trials: Measurement, Impact, and Statistical Approaches for Patient-as-Own-Control Designs
Marshall L Summar, Janet Woodcock
Clinical and Translational Science
|
May 8, 2026
Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial
Marshall L Summar, Janet Woodcock
Pediatric Clinics of North America
|
March 6, 2018
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders
Marshall L Summar, Nicholas Ah Mew
Molecular Genetics and Metabolism
|
September 26, 2008
Attitudes regarding vaccination among practitioners of clinical biochemical genetics
Bruce A Barshop, Marshall L Summar
Molecular Genetics and Metabolism
|
September 13, 2011
Propionic acidemia consensus conference summary
Kimberly A Chapman, Marshall L Summar
Molecular Genetics and Metabolism
|
September 28, 2014
On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases
Marshall L Summar, Fumio Endo, Stefan Kölker
Pediatric Transplantation
|
February 16, 2012
Propionic acidemia: to liver transplant or not to liver transplant?
Kimberly A Chapman, Marshall L Summar, Gregory M Enns
Molecular Genetics and Metabolism
|
January 27, 2005
Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics
Jason H Moore, Erik M Boczko, Marshall L Summar
The Journal of Pediatrics
|
October 3, 2013
Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders
Peter J McGuire, Hye-Seung Lee, , et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
July 24, 2008
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
Marshall L Summar, Dries Dobbelaere, Saul Brusilow, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 57) with videos related to
Sort By:
Page
of 6
Clinical and Translational Science
|
April 29, 2026
The Placebo Effect in Rare Disease Clinical Trials: Measurement, Impact, and Statistical Approaches for Patient-as-Own-Control Designs
Marshall L Summar, Janet Woodcock
Clinical and Translational Science
|
May 8, 2026
Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial
Marshall L Summar, Janet Woodcock
Pediatric Clinics of North America
|
March 6, 2018
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders
Marshall L Summar, Nicholas Ah Mew
Molecular Genetics and Metabolism
|
September 26, 2008
Attitudes regarding vaccination among practitioners of clinical biochemical genetics
Bruce A Barshop, Marshall L Summar
Molecular Genetics and Metabolism
|
September 13, 2011
Propionic acidemia consensus conference summary
Kimberly A Chapman, Marshall L Summar
Molecular Genetics and Metabolism
|
September 28, 2014
On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases
Marshall L Summar, Fumio Endo, Stefan Kölker
Pediatric Transplantation
|
February 16, 2012
Propionic acidemia: to liver transplant or not to liver transplant?
Kimberly A Chapman, Marshall L Summar, Gregory M Enns
Molecular Genetics and Metabolism
|
January 27, 2005
Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics
Jason H Moore, Erik M Boczko, Marshall L Summar
The Journal of Pediatrics
|
October 3, 2013
Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders
Peter J McGuire, Hye-Seung Lee, , et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
July 24, 2008
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
Marshall L Summar, Dries Dobbelaere, Saul Brusilow, et al.
Page
of 6