Results 51 to 60 of about 1,393 (127)

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M. Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg   +14 more
wiley   +1 more source

Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Orphanet Journal of Rare Diseases, 2023
Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or ...
Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh   +7 more
doaj   +1 more source

Brain Age in Adult Patients With Early‐Treated Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Structural brain alterations have been observed in individuals with phenylketonuria (PKU); however, the potential impact of PKU on brain aging remains unexplored. This study investigated brain age in adults with early‐treated classical PKU compared to healthy controls. Thirty early‐treated adults with classical PKU (age 19–48 years) and 59 age‐
Laura Winiger, Raphaela Muri, Tobias Kaufmann, Michel Hochuli, Emma Vardy, Piotr Radojewski, Katarzyna Pospieszny, Roman Trepp, Regula Everts   +8 more
wiley   +1 more source

Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test

Journal of Inborn Errors of Metabolism and Screening, 2018
In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT.
Catarina Sousa Barbosa BSc, Manuela F. Almeida BSc, Cátia Sousa BSc, Sara Rocha MD, Arlindo Guimas MD, Rosa Ribeiro MD, Esmeralda Martins MD, PhD, Anabela Bandeira MD, Bruno M. P. M. Oliveira PhD, Nuno Borges PhD, Anita MacDonald PhD, Júlio C. Rocha PhD   +11 more
doaj   +1 more source

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)

Orphanet Journal of Rare Diseases, 2018
Background People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance.
Kristen D Brantley, Teresa D Douglas, Rani H Singh   +2 more
doaj   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source

Dietary intervention in the management of phenylketonuria: current perspectives

Pediatric Health, Medicine and Therapeutics, 2016
Júlio César Rocha,1-3 Anita MacDonald4 1Centro de Genética Médica, Centro Hospitalar do Porto – CHP, 2Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, 3Center for Health Technology and Services ...
Rocha JC, MacDonald A
doaj  

Predictive Analysis for First Submission of Generic Drug Application for Orphan Drug Products Using Random Survival Forest

Clinical and Translational Science, Volume 18, Issue 10, October 2025.
ABSTRACT Rare diseases affect a small population of patients, resulting in low incentives for developing orphan drug products (ODPs). The United States Congress passed the Orphan Drug Act of 1983 to incentivize pharmaceutical manufacturers to develop drugs to treat rare diseases.
Robert Hopefl, Jing Wang, Abhinav Ram Mohan, Wei‐Jhe Sun, Myong‐Jin Kim, Meng Hu, Lanyan Fang   +6 more
wiley   +1 more source

Say NO to ROS: Their Roles in Embryonic Heart Development and Pathogenesis of Congenital Heart Defects in Maternal Diabetes

Antioxidants, 2019
Congenital heart defects (CHDs) are the most prevalent and serious birth defect, occurring in 1% of all live births. Pregestational maternal diabetes is a known risk factor for the development of CHDs, elevating the risk in the child by more than four ...
Anish Engineer, Tana Saiyin, Elizabeth R. Greco, Qingping Feng   +3 more
doaj   +1 more source