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Journal of Inherited Metabolic Disease
|
March 10, 2018
Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice
Tanja Scherer, Gabriella Allegri, Christineh N Sarkissian, et al.
Molecular Genetics and Metabolism
|
June 29, 2020
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
Barbara K Burton, Nicola Longo, Jerry Vockley, et al.
Molecular Genetics and Metabolism
|
April 10, 2018
Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial
Cary O Harding, R Stephen Amato, Mary Stuy, et al.
Molecular Genetics and Metabolism
|
December 24, 2023
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria
Barbara K Burton, Gillian E Clague, Cary O Harding, et al.
Molecular Genetics and Metabolism
|
September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years
Susan A Berry, Nicola Longo, George A Diaz, et al.
Orphanet Journal of Rare Diseases
|
June 20, 2025
Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review
Fiona O'Sullivan, Ioannis Tomazos, Francjan J van Spronsen, et al.
Lancet (London, England)
|
April 19, 2014
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial
Nicola Longo, Cary O Harding, Barbara K Burton, et al.
Communications Biology
|
August 29, 2023
A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Garen Gaston, Shannon Babcock, Renee Ryals, et al.
Ophthalmology
|
August 6, 2016
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases
Erin A Boese, Nieraj Jain, Yali Jia, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
Melanie B Gillingham, Dongseok Choi, Ashley Gregor, et al.
Page
of 12
Search research articles
Search
Showing results (71-80 of 113) with videos related to
Sort By:
Page
of 12
Journal of Inherited Metabolic Disease
|
March 10, 2018
Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice
Tanja Scherer, Gabriella Allegri, Christineh N Sarkissian, et al.
Molecular Genetics and Metabolism
|
June 29, 2020
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up
Barbara K Burton, Nicola Longo, Jerry Vockley, et al.
Molecular Genetics and Metabolism
|
April 10, 2018
Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial
Cary O Harding, R Stephen Amato, Mary Stuy, et al.
Molecular Genetics and Metabolism
|
December 24, 2023
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria
Barbara K Burton, Gillian E Clague, Cary O Harding, et al.
Molecular Genetics and Metabolism
|
September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years
Susan A Berry, Nicola Longo, George A Diaz, et al.
Orphanet Journal of Rare Diseases
|
June 20, 2025
Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review
Fiona O'Sullivan, Ioannis Tomazos, Francjan J van Spronsen, et al.
Lancet (London, England)
|
April 19, 2014
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial
Nicola Longo, Cary O Harding, Barbara K Burton, et al.
Communications Biology
|
August 29, 2023
A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Garen Gaston, Shannon Babcock, Renee Ryals, et al.
Ophthalmology
|
August 6, 2016
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases
Erin A Boese, Nieraj Jain, Yali Jia, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
Melanie B Gillingham, Dongseok Choi, Ashley Gregor, et al.
Page
of 12