Results 61 to 70 of about 2,156 (206)

The financial and time burden associated with phenylketonuria treatment in the United States

Molecular Genetics and Metabolism Reports, 2019
Background: Phenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition.
Angela M. Rose, Scott D. Grosse, Sandra P. Garcia, Janice Bach, Mary Kleyn, Norma-Jean E. Simon, Lisa A. Prosser   +6 more
doaj   +1 more source

Immunological impact of tetrahydrobiopterin on the central nervous system in a murine model of rabies virus infection

Revista do Instituto de Medicina Tropical de São Paulo, 2021
Currently, the Milwaukee protocol presents healing results in human beings affected by the rabies virus. However, there are many points to clarify on the action of drugs and the immune mechanism involved in the evolution of the disease.
Caio Vinicius Botelho Brito, Érika Dayane Leal Rodrigues, Fernanda Monik Silva Martins, Lavinia Dias Tavares, André Luis de Sousa Nogueira Lima, Lucas Carvalho Ferreira, Carlos Junior Lopes Santana, João Augusto Gomes de Souza Monteiro de Brito, Lívia Medeiros Neves Casseb, José Antonio Picanço Diniz Junior   +9 more
doaj   +1 more source

Ethnic Bridging of Sepiapterin in Chinese and Korean Populations Based on Predictions From Genetic Polymorphism of Breast Cancer Resistance Protein. [PDF]

Clin Transl Sci
ABSTRACT Ethnic differences are crucial when considering the efficacy, safety, and dose of pharmaceuticals across diverse populations. The International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guideline E5 addresses the acceptability of extrapolating foreign clinical data taking ethnic factors into ...
Gao L, Smith N, Kong R.
europepmc   +2 more sources

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

JIMD Rep
ABSTRACT 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, effectively reduced blood Phe in phase III studies in the United States. This multicenter,
Nakajima Y, Ishige M, Ito T, Hamazaki T, Kuwahara M, Lee L, Shintaku H.   +6 more
europepmc   +2 more sources

Sapropterin Dihydrochloride Mixed With Common Foods and Beverages [PDF]

Topics in Clinical Nutrition, 2014
Sapropterin dihydrochloride is used to lower blood phenylalanine levels in tetrahydrobiopterin-responsive phenylketonuria in conjunction with a phenylalanine-restricted diet. This study investigated the solubility and stability of sapropterin tablets and a sapropterin powder formulation when mixed in selected beverages and foods. Solubility was partial
Jurecki, Elaina R., Cunningham, Amy, Mahoney, John J., Tingley, Douglas, Chung, Stanley, James, Neil, Cohen-Pfeffer, Jessica L.   +6 more
openaire   +2 more sources

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

Molecular Genetics and Metabolism, 2021
Sapropterin dihydrochloride has been approved for the treatment of hyperphenylalaninemia in infants and young children with phenylketonuria (PKU).
S. Waisbren, B. Burton, A. Feigenbaum, Laura Konczal, Joshua Lilienstein, S. McCandless, R. Rowell, A. Sanchez-Valle, Kaleigh B. Whitehall, N. Longo   +9 more
semanticscholar   +1 more source

Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study

Journal of Inborn Errors of Metabolism and Screening, 2021
Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to
Anjali Aggarwal, Hope Northrup, David F. Rodriguez-Buritica, S. Shahrukh Hashmi, Heather Saavedra   +4 more
doaj   +1 more source

The determination of impurities in Sapropterin Di-HCl powder for oral solution by Chromatography: A Robust, Stabilized Approach revealing Forced Degradation Studies

Research journal of chemistry and environment
This research study presents a comprehensive and validated chromatographic method for the precise quantification of Sapropterin Di hydrochloride (SAPR) and its associated impurities using RP-HPLC technique (Liquid chromatography with Reverse phase).
Tirumala Jyothesh Kumar Garimi, B. Andrews, V. D. N. Kumar Abbaraju, P. Reddy, K. Nagu   +4 more
semanticscholar   +1 more source

Phenylketonuria (PKU) in adults

Acta Pediátrica de México, 2014
Monitoring phenylketonuria adult patients is an important subject which has created considerable interest in specialized metabolic clinics. The aim of this paper is to present an overview of the experience with these patients in the Unit of Metabolic ...
Mercedes Martínez-Pardo
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source