Results 41 to 50 of about 69,044 (178)

Glutamine energy substrate anaplerosis increases bone density in the Pahenu2 classical PKU mouse in the absence of phenylalanine restriction

JIMD Reports, 2022
Osteopenia is an under‐investigated clinical presentation of phenylalanine hydroxylase (PAH)‐deficient phenylketonuria (PKU). While osteopenia is not fully penetrant in human PKU, the Pahenu2 mouse is universally osteopenic and ideal to study the ...
Steven F. Dobrowolski, Yu Leng Phua, Irina L. Tourkova, Cayla Sudano, Jerry Vockley, Quitterie C. Larrouture, Harry C. Blair   +6 more
doaj   +1 more source

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

Synthesis of 6β-N(5)-Methyl-5,6,7,8-tetrahydro-L-biopterin

Pteridines, 1993
Summary 6β-N(5)-methyl-5.6J,8-tetrahydro-L-biopterin·2 HC1. a new derivate of biological interest, was synthesized from 6β-5,6,7,8-tetrahydro-L-biopteril·2 HC1 and characterized.
Bosshard Rene, Heizmann Claus W., Viscontini Max   +2 more
doaj   +1 more source

Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia

Molecular Genetics & Genomic Medicine, 2020
Background Recently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12‐associated HPA is a rare in Chinese population so far.
Mengting Li, Qi Yang, Sheng Yi, Zailong Qin, Jingsi Luo, Xin Fan   +5 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

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +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

Assessing Executive Functions in Children With Developmental Dyslexia: A Comprehensive Approach

Dyslexia, Volume 32, Issue 1, February 2026.
ABSTRACT Developmental dyslexia (DD) is frequently associated with executive function (EF) deficits, particularly in inhibition, working memory and cognitive flexibility. This study assessed EF in 40 children with DD, aged 7–16, using both performance‐based tests and rating measures, and examined the role of co‐occurring attention deficit hyperactivity
Amanda Guerra, Julie Remaud, Olivier Cadeau, Valérie Charbonnier, Marie‐Charlotte Dubrey, Julie Proteau, Morgane Daheron, Martine Le Roch, Jean‐Luc Roulin, Nathalie Fournet, Didier Le Gall, Arnaud Roy   +11 more
wiley   +1 more source

Extensive Dysregulation of Phenylalanine Metabolism Is Associated With Stress Hyperphenylalaninemia and 30‐Day Death in Critically Ill Patients With Acute Decompensated Heart Failure

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Stress hyperphenylalaninemia predicts elevated mortality rates in patients with acute decompensated heart failure (ADHF). This study investigated the metabolic pathways underlying this association and identified a unique metabolic phenotype ...
Wei‐Siang Chen, Min‐Hui Liu, Yi‐Liang Tsou, Huang‐Ping Wu, Hsuan‐Ching Lin, Chung‐Yu Liang, Chao‐Hung Wang   +6 more
doaj   +1 more source

Plasma Proteome Profiling of Centenarian Across Switzerland Reveals Key Youth‐Associated Proteins

Aging Cell, Volume 25, Issue 2, February 2026.
We characterized the plasma proteomic profiles of centenarians from the SWISS100 cohort, identifying 583 differentially expressed proteins compared to younger and geriatric groups. Cross‐validation with the independent datasets NECS and the TAME consortium confirmed a robust aging signature, while fractional polynomial regressions revealed a specific ...
Flavien Delhaes, Justine Falciola, Adar Hoffman, Stéphanie Carnesecchi, Stefano Cavalli, Armin von Gunten, Daniela S. Jopp, François R. Herrmann, Karl‐Heinz Krause   +8 more
wiley   +1 more source