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Human Mutation
|
July 31, 2008
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
Sabrina Mitchell, Clint Ellingson, Thomas Coyne, et al.
Human Mutation
|
May 8, 2013
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool
Carmen Diez-Fernandez, Ana I Martínez, Satu Pekkala, et al.
International Journal of Environmental Research and Public Health
|
March 29, 2023
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges
Takeya Adachi, Ayman W El-Hattab, Ritu Jain, et al.
Molecular Genetics and Metabolism
|
August 28, 2022
Amino acid signature during sickle cell pain crisis shows significant alterations related to nitric oxide and energy metabolism
Yun Zhou, Xue Yu, Ava Nicely, et al.
Cardiovascular Research
|
June 8, 2012
Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulation
Candice D Fike, Marta Sidoryk-Wegrzynowicz, Michael Aschner, et al.
Paediatric Anaesthesia
|
January 11, 2016
Preoperative evaluation and comprehensive risk assessment for children with Down syndrome
Amy Feldman Lewanda, Andrew Matisoff, Mary Revenis, et al.
British Journal of Haematology
|
February 8, 2018
A phase 1 dose-finding study of intravenous L-citrulline in sickle cell disease: a potential novel therapy for sickle cell pain crisis
Suvankar Majumdar, Rommel Tirona, Hafsat Mashegu, et al.
The Journal of Pediatrics
|
January 10, 2003
Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery
Frederick E Barr, Heidi Beverley, Kristin VanHook, et al.
AIDS Research and Human Retroviruses
|
November 10, 2015
Acylcarnitine Profiles in HIV-Exposed, Uninfected Neonates in the United States
Brian Kirmse, Tzy-Jyun Yao, Sean Hofherr, et al.
Molecular Genetics and Metabolism
|
May 27, 2020
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes
M Sol Collado, Allison J Armstrong, Matthew Olson, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 68) with videos related to
Sort By:
Page
of 7
Human Mutation
|
July 31, 2008
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
Sabrina Mitchell, Clint Ellingson, Thomas Coyne, et al.
Human Mutation
|
May 8, 2013
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool
Carmen Diez-Fernandez, Ana I Martínez, Satu Pekkala, et al.
International Journal of Environmental Research and Public Health
|
March 29, 2023
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges
Takeya Adachi, Ayman W El-Hattab, Ritu Jain, et al.
Molecular Genetics and Metabolism
|
August 28, 2022
Amino acid signature during sickle cell pain crisis shows significant alterations related to nitric oxide and energy metabolism
Yun Zhou, Xue Yu, Ava Nicely, et al.
Cardiovascular Research
|
June 8, 2012
Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulation
Candice D Fike, Marta Sidoryk-Wegrzynowicz, Michael Aschner, et al.
Paediatric Anaesthesia
|
January 11, 2016
Preoperative evaluation and comprehensive risk assessment for children with Down syndrome
Amy Feldman Lewanda, Andrew Matisoff, Mary Revenis, et al.
British Journal of Haematology
|
February 8, 2018
A phase 1 dose-finding study of intravenous L-citrulline in sickle cell disease: a potential novel therapy for sickle cell pain crisis
Suvankar Majumdar, Rommel Tirona, Hafsat Mashegu, et al.
The Journal of Pediatrics
|
January 10, 2003
Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery
Frederick E Barr, Heidi Beverley, Kristin VanHook, et al.
AIDS Research and Human Retroviruses
|
November 10, 2015
Acylcarnitine Profiles in HIV-Exposed, Uninfected Neonates in the United States
Brian Kirmse, Tzy-Jyun Yao, Sean Hofherr, et al.
Molecular Genetics and Metabolism
|
May 27, 2020
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes
M Sol Collado, Allison J Armstrong, Matthew Olson, et al.
Page
of 7