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The American Journal of Clinical Nutrition
|
March 5, 2025
Phenylketonuria in adults: we know plenty, but there is much more to learn
Cary O Harding, Georgianne Arnold, Gerard T Berry, et al.
The Journal of Pediatrics
|
January 18, 2013
Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate
Wendy Smith, George A Diaz, Uta Lichter-Konecki, et al.
Molecular Genetics and Metabolism
|
April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
Janet Thomas, Harvey Levy, Stephen Amato, et al.
Clinical and Translational Science
|
May 31, 2021
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria
Yulan Qi, Gina Patel, Joshua Henshaw, et al.
The Journal of Pediatrics
|
September 17, 2010
Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants
Bradford D Gessner, Melanie B Gillingham, Monique A Johnson, et al.
Cell Transplantation
|
November 28, 2018
Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1
Raymond D Hickey, Clara T Nicolas, Kari Allen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Nicola Longo, David Dimmock, Harvey Levy, et al.
Molecular Genetics and Metabolism
|
September 16, 2018
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders
Susan A Berry, Jerry Vockley, Alexander A Vinks, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)
Hak Chung, Dongseok Choi, Ashley Gregor, et al.
Orphanet Journal of Rare Diseases
|
September 12, 2024
Meta-analysis of bone mineral density in adults with phenylketonuria
Júlio C Rocha, Álvaro Hermida, Cheryl J Jones, et al.
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Search research articles
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Showing results (91-100 of 113) with videos related to
Sort By:
Page
of 12
The American Journal of Clinical Nutrition
|
March 5, 2025
Phenylketonuria in adults: we know plenty, but there is much more to learn
Cary O Harding, Georgianne Arnold, Gerard T Berry, et al.
The Journal of Pediatrics
|
January 18, 2013
Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate
Wendy Smith, George A Diaz, Uta Lichter-Konecki, et al.
Molecular Genetics and Metabolism
|
April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
Janet Thomas, Harvey Levy, Stephen Amato, et al.
Clinical and Translational Science
|
May 31, 2021
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria
Yulan Qi, Gina Patel, Joshua Henshaw, et al.
The Journal of Pediatrics
|
September 17, 2010
Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants
Bradford D Gessner, Melanie B Gillingham, Monique A Johnson, et al.
Cell Transplantation
|
November 28, 2018
Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1
Raymond D Hickey, Clara T Nicolas, Kari Allen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Nicola Longo, David Dimmock, Harvey Levy, et al.
Molecular Genetics and Metabolism
|
September 16, 2018
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders
Susan A Berry, Jerry Vockley, Alexander A Vinks, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)
Hak Chung, Dongseok Choi, Ashley Gregor, et al.
Orphanet Journal of Rare Diseases
|
September 12, 2024
Meta-analysis of bone mineral density in adults with phenylketonuria
Júlio C Rocha, Álvaro Hermida, Cheryl J Jones, et al.
Page
of 12