Results 21 to 30 of about 669 (133)

Characterization of Sapropterin Dihydrochloride Tablet

Journal of Drug Delivery and Therapeutics
Characterization of Kuvan tablets involved thorough analysis of physical, chemical, and dissolution properties. Formulation development encompassed pre-formulation studies, feasibility trials, and process optimization. Kuvan tablets demonstrated variability in sapropterin dihydrochloride concentration but rapid dissolution across different media ...
Rakesh Kumar Jat, Tapan Kumar Jena
openaire   +3 more sources

Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness

Children, 2021
The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) in the context of new data on adherence to recommended diet treatment and a newly available drug treatment (sapropterin ...
Huey-Fen Chen, Angela M. Rose, Susan Waisbren, Ayesha Ahmad, Lisa A. Prosser   +4 more
doaj   +2 more sources

Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride

Gynecological Endocrinology, 2016
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome.
Yilmaz, Yildiz, Ali, Dursun, Aysegul, Tokatli, Turgay, Coskun, Serap, Sivri   +4 more
openaire   +3 more sources

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

Orphanet Journal of Rare Diseases, 2021
Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine.
Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi   +9 more
doaj   +2 more sources

Relationship Between Gut Microbiota and Phenylalanine Levels: A Mendelian Randomization Study. [PDF]

Microbiologyopen
This study showed that Family XIII AD3011 group was associated with reduced Phe levels, providing important evidence to reveal the interaction between gut microbiota and Phe levels, and providing a scientific basis for the development of personalized diet and nutrition recommendations for PKU patients.
Liu Z, Ye M, Jin H, Chen W, Jieens H, Han R.   +5 more
europepmc   +2 more sources

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

Formulation and Optimization of Immediate Release Tablet of Sapropterin Dihydrochloride by Dry Granulation Process

Journal of Drug Delivery and Therapeutics
The research aims to develop and evaluate an immediate-release dosage form of sapropterin dihydrochloride to improve efficacy, stability, and patient acceptance in treating hyperphenylalaninemia (HPA), ensuring rapid therapeutic action upon administration.
Rakesh Kumar Jat, Tapan Kumar Jena
openaire   +3 more sources

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries [PDF]

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 636-650, July 2024.
Abstract Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth defects.
François Feillet, Can Ficicioglu, Florian B. Lagler, Nicola Longo, Ania C. Muntau, Alberto Burlina, Friedrich K. Trefz, Francjan J. van Spronsen, Jean‐Baptiste Arnoux, Kristin Lindstrom, Joshua Lilienstein, Gillian E. Clague, Richard Rowell, Barbara K. Burton, on behalf of the KAMPER and PKUDOS investigators   +14 more
wiley   +2 more sources

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases

Journal of Inherited Metabolic Disease, 2014
AbstractSapropterin dihydrochloride (SD) is the first drug treatment for phenylketonuria (PKU), but due to the lack of data, its use in maternal PKU must be undertaken with caution as noted in the FDA and EMEA labels. We collected data from eight pregnancies in PKU women treated with SD and we analysed the phenotypes of these patients, their ...
Feillet, Francois, Muntau, Ania C., DEBRAY, François-Guillaume, Lotz-Havla, Amelie S., Puchwein-Schwepcke, Alexandra, Fofou-Caillierez, Ma Atem Beatrice, van Spronsen, Francjan, Trefz, Fritz Friedrich   +7 more
openaire   +4 more sources

Changing dietary practices in phenylketonuria

The Turkish Journal of Pediatrics, 2009
In recent years, there has been much focus on research on non-dietary treatments in phenylketonuria (PKU). However, diet is likely to remain the major treatment for many years to come, since it has continued to be developed and consistent ...
Anita Macdonald, Hülya Gökmen-Ozel, Anne Daly   +2 more
doaj   +3 more sources