Results 1 to 10 of about 255 (78)

Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria [PDF]

PLoS ONE, 2017
Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic levels of phenylalanine (Phe).
Sean M Bell, Dan J Wendt, Yanhong Zhang, Timothy W Taylor, Shinong Long, Laurie Tsuruda, Bin Zhao, Phillip Laipis, Paul A Fitzpatrick   +8 more
exaly   +6 more sources

Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria [PDF]

Molecular Genetics and Metabolism, 2011
Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype (OMIM 261600), is an inborn error of metabolism causing impaired postnatal cognitive development in the absence of treatment. We used the Pah(enu2/enu2) PKU mouse model to study oral enzyme substitution therapy with various chemically modified formulations of phenylalanine ammonia lyase ...
Christineh N Sarkissian, Tse Siang Kang, Alejandra Gámez   +2 more
exaly   +5 more sources

Long‐Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial [PDF]

JIMD Reports
Phenylketonuria (PKU) is an inborn error of metabolism leading to phenylalanine (Phe) accumulation and consequent neurological, neurocognitive, and psychiatric symptoms. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe,
Yoko Nakajima, Mika Ishige, Tetsuya Ito, Takashi Hamazaki, Mitsuhiro Kuwahara, Lawrence Lee, Haruo Shintaku   +6 more
doaj   +2 more sources

Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns [PDF]

Molecular Genetics and Metabolism Reports
Background: Phenylketonuria (PKU) is a metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency, resulting in elevated plasma phenylalanine (Phe) levels.
Jariya Upadia, Grace Noh, Kea Crivelly, Amy Cunningham, Elise Aziz, Hans C. Andersson   +5 more
doaj   +2 more sources

Development of Pegylated Forms of Recombinant Rhodosporidium toruloides Phenylalanine Ammonia-Lyase for the Treatment of Classical Phenylketonuria

Molecular Therapy, 2005
Phenylketonuria (PKU) is a metabolic disorder due primarily to mutations in the PAH gene that impair both phenylalanine hydroxylase activity and disposal of l-phenylalanine from the normal diet. Excess phenylalanine is toxic to cognitive development and a low-phenylalanine diet prevents mental retardation, but it is a difficult therapeutic option ...
Alejandra Gámez, Christineh N Sarkissian, Charles O’Neill   +2 more
exaly   +3 more sources

Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program [PDF]

Molecular Genetics and Metabolism Reports
Phenylketonuria (PKU) is a genetic disorder caused by deficiency of the enzyme phenylalanine hydroxylase (PAH), which results in phenylalanine (Phe) accumulation in the blood and brain, and requires lifelong treatment to keep blood Phe in a safe range ...
Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G. Levy, Shaun Jones, Barbara K. Burton   +13 more
doaj   +2 more sources

Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion) [PDF]

Molecular Genetics and Metabolism Reports
Objective: Phenylketonuria (PKU) is a metabolic disorder necessitating lifelong management to prevent severe neurological impairments. This paper synthesises clinical practices from Italian specialist centres to delineate a unified approach for ...
Iris Scala, Lucia Brodosi, Valentina Rovelli, Davide Noto, Alberto Burlina   +4 more
doaj   +2 more sources

Phenylalanine ammonia-lyase through evolution: A bioinformatic approach [PDF]

Trends in Pharmaceutical Sciences, 2015
Phenylalanine ammonia-lyase (PAL) is the first entry enzyme of the phenylpropanoid pathway that converts phenylalanine to cinnamic acid which is the precursor of various secondary metabolites.
Shiva Hemmati
doaj   +5 more sources

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

Molecular Genetics and Metabolism Reports, 2021
Objective: To present a case series that illustrates real-world use of pegvaliase based on the initial experiences of US healthcare providers. Methods: Sixteen healthcare providers from 14 centers across the US with substantial clinical experience in ...
Darius Adams, Hans C. Andersson, Heather Bausell, Kea Crivelly, Caroline Eggerding, Melissa Lah, Joshua Lilienstein, Kristin Lindstrom, Markey McNutt, Joseph W. Ray, Heather Saavedra, Stephanie Sacharow, Danielle Starin, Jennifer Tiffany-Amaro, Janet Thomas, Erika Vucko, Leah B. Wessenberg, Kaleigh Whitehall   +17 more
doaj   +1 more source

Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria [PDF]

Proceedings of the National Academy of Sciences, 2008
Phenylketonuria (PKU) is a metabolic disorder, in which loss of phenylalanine hydroxylase activity results in neurotoxic levels of phenylalanine. We used the Pah enu2/enu2 PKU mouse model in short- and long-term studies of enzyme substitution therapy with PEGylated ...
Christineh N, Sarkissian, Alejandra, Gámez, Lin, Wang, Marilyse, Charbonneau, Paul, Fitzpatrick, Jeffrey F, Lemontt, Bin, Zhao, Michael, Vellard, Sean M, Bell, Carroll, Henschell, Amy, Lambert, Laurie, Tsuruda, Raymond C, Stevens, Charles R, Scriver   +13 more
openaire   +2 more sources