Results 71 to 80 of about 73,449 (206)

Phenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, China

, 2011
Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live births. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians.
Siu, WK, Ko, CH, Lam, CW, Chen, SPL, Chan, AYW, Mak, CM, Lai, CK, Lau, WL, Law, CY, Yu, CM   +9 more
core   +1 more source

The value of simultaneous determination of blood large neutral amino acids and tetrahydrobiopterin metabolites in the diagnosis of atypical hyperphenylalaninemia

Egyptian Liver Journal
Tetrahydrobiopterin deficiency in newborns with atypical hyperphenylalaninemia requires rapid and accurate diagnosis and the ability to distinguish it from the classical type to prevent early irreversible neurological damage.
Nadia Salama, Gamalte Elgedawy, Radwa Gamal, Osama Zaki, Ashraf Khalil, Manar Obada   +5 more
doaj   +1 more source

Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

Лечащий Врач
Background. The main therapy for phenylketonuria is a specialised diet with restriction of natural protein, respectively phenylalanine with the prescription of specialised therapeutic foods based on amino acids without phenylalanine.
E. A. Shestopalova
doaj   +1 more source

PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: Correlation of mutation type with disease manifestation and severity [PDF]

Journal of Medical Biochemistry, 2014
Background: Efficient treatment of inherited hyperphenylalaninemia requires exact identification of mutations defining the trait. Such knowledge is important both for effective individual therapy and understanding of the genetic history and evolution of ...
Baturina Olga A., Tupikin Alexey E., Lukjanova Tatyana V., Sosnitskaya Svetlana V., Morozov Igor V.   +4 more
doaj  

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Use of sapropterin in Mexican patients with yperphenylalaninemia

Acta Pediátrica de México, 2014
Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo, Leticia Belmont-Martínez, Cynthia Fernández-Lainez   +2 more
doaj   +1 more source

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria

European Journal of Neurology, Volume 33, Issue 4, April 2026.
This infographic summarizes the study on the perceived role of digital tools in supporting information, education, and communication in phenylketonuria (PKU) care. Survey findings from patients, caregivers, and healthcare professionals highlight a preference for hybrid care pathways that integrate digital solutions with face‐to‐face consultations ...
Sara Cannizzo, Vinciane Quoidbach, Bernadette Sheehan‐Gilroy, Tobias Hagedorn, Agata Bak, Suzanne L. Dickson, Eileen P. Treacy, Alvaro Hermida, Anita MacDonald, Eva Venegas, James O'Byrne, Maurizio Scarpa, Francjan Van Spronsen, Eric Lange, Tim Buckinx, Ahmad Monavari, Stephan vom Dahl, Leopoldo Trieste, Giuseppe Turchetti   +18 more
wiley   +1 more source

Age‐Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The correct diagnosis of tetrahydrobiopterin (BH4, sapropterin dihydrochloride)‐responsive phenylketonuria (PKU) and treatment with BH4 are important for prognosis and quality of life. We examined whether age affects biopterin bioavailability following oral BH4 administration in PKU and whether this influences BH4 responsiveness.
Kana Kitayama, Tomoko Sakaguchi, Noriko Nakano, Daijiro Kabata, Haruo Shintaku, Takashi Hamazaki   +5 more
wiley   +1 more source

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

, 2018
Objectives: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais.
Cezar Antonio Abreu de Souza, Valéria de Melo Rodrigues, Michelle Rosa Andrade Alves, Viviane de Cássia Kanufre, Rocksane de Carvalho Norton, Rosangelis del Lama Soares, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar   +7 more
core   +2 more sources

Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

The Turkish Journal of Pediatrics, 2012
In many countries, neonatal screening programs have been unable to expand and have been limited to a few diseases. We highlight herein the opportunity available for the early detection of some inborn errors of metabolism (IEMs) in those countries ...
Ozlem Unal, Burcu Oztürk-Hişmi, Turgay Coşkun, Ayşegül Tokatlı, Ali Dursun, Hatice Serap Sivri   +5 more
doaj   +1 more source