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Stem Cell Research
|
June 1, 2014
Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease
Raymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.
Molecular Genetics and Metabolism
|
February 8, 2014
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening
J Lawrence Merritt, Sverre Vedal, Jose E Abdenur, et al.
Nutrients
|
September 28, 2023
Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria
Júlio César Rocha, Kirsten K Ahring, Heather Bausell, et al.
Molecular Genetics and Metabolism Reports
|
November 24, 2021
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials
Barbara K Burton, Anne Skalicky, Christoph Baerwald, et al.
Ophthalmic Genetics
|
January 30, 2024
A proposal for an updated staging system for LCHADD retinopathy
Nida Wongchaisuwat, Melanie B Gillingham, Paul Yang, et al.
Molecular Genetics and Metabolism
|
July 26, 2024
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency
Shawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
August 9, 2012
In vivo selection of transplanted hepatocytes by pharmacological inhibition of fumarylacetoacetate hydrolase in wild-type mice
Nicole K Paulk, Karsten Wursthorn, Annelise Haft, et al.
Journal of Neurochemistry
|
April 1, 2006
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
Sven W Sauer, Jürgen G Okun, Gert Fricker, et al.
Molecular Genetics and Metabolism Reports
|
May 2, 2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
Cary O Harding, Nicola Longo, Hope Northrup, et al.
Ebiomedicine
|
October 28, 2018
Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials
Soumi Gupta, Kelly Lau, Cary O Harding, et al.
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of 12
Search research articles
Search
Showing results (81-90 of 113) with videos related to
Sort By:
Page
of 12
Stem Cell Research
|
June 1, 2014
Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease
Raymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.
Molecular Genetics and Metabolism
|
February 8, 2014
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening
J Lawrence Merritt, Sverre Vedal, Jose E Abdenur, et al.
Nutrients
|
September 28, 2023
Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria
Júlio César Rocha, Kirsten K Ahring, Heather Bausell, et al.
Molecular Genetics and Metabolism Reports
|
November 24, 2021
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials
Barbara K Burton, Anne Skalicky, Christoph Baerwald, et al.
Ophthalmic Genetics
|
January 30, 2024
A proposal for an updated staging system for LCHADD retinopathy
Nida Wongchaisuwat, Melanie B Gillingham, Paul Yang, et al.
Molecular Genetics and Metabolism
|
July 26, 2024
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency
Shawn E Christ, Georgianne Arnold, Uta Lichter-Konecki, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
August 9, 2012
In vivo selection of transplanted hepatocytes by pharmacological inhibition of fumarylacetoacetate hydrolase in wild-type mice
Nicole K Paulk, Karsten Wursthorn, Annelise Haft, et al.
Journal of Neurochemistry
|
April 1, 2006
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
Sven W Sauer, Jürgen G Okun, Gert Fricker, et al.
Molecular Genetics and Metabolism Reports
|
May 2, 2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
Cary O Harding, Nicola Longo, Hope Northrup, et al.
Ebiomedicine
|
October 28, 2018
Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials
Soumi Gupta, Kelly Lau, Cary O Harding, et al.
Page
of 12