Results 11 to 20 of about 4,628 (262)

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review [PDF]

Children, 2023
6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat
Lucia Maria Sur, Monica Alina Mager, Alexandru-Cristian Bolunduţ, Adrian-Pavel Trifa, Dana Teodora Anton-Păduraru   +4 more
doaj   +2 more sources

Comparative metabolism of conjugated and unconjugated pterins in Crithidia, Leishmania and African trypanosomes. [PDF]

PLoS Neglected Tropical Diseases
Mammalian cells synthesise tetrahydrobiopterin de novo, an essential cofactor for hydroxylation of aromatic amino acids, cleavage of ether lipids and the synthesis of nitric oxide.
Han B Ong, Susan Wyllie, Alan H Fairlamb
doaj   +2 more sources

Pushing at the Boundaries of Pterin Chemistry [PDF]

Molecules
Pterins are molecules of substantial interest as they occur in nature in a number of forms with quite distinct and often indispensable roles. Chemically, the synthesis of the principle pterin scaffold is comparably simple, while the insolubility of the ...
Jevy V. Correia, Siva S. M. Bandaru, Carola Schulzke   +2 more
doaj   +2 more sources

Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study [PDF]

Children
Objectives: To investigate the clinical value of cerebrospinal fluid (CSF) testing for biogenic amine, pterins, amino acids, and folates in paediatric onset epilepsies. Methods: Retrospective clinical and biochemical phenotyping of patients with epilepsy
Mario Mastrangelo, Claudia Carducci, Filippo Manti, Giacomina Ricciardi, Rossella Bove, Francesco Pisani, Vincenzo Leuzzi   +6 more
doaj   +2 more sources

Autoxidation Kinetics of Tetrahydrobiopterin—Giving Quinonoid Dihydrobiopterin the Consideration It Deserves [PDF]

Molecules, 2023
In humans, tetrahydrobiopterin (H4Bip) is the cofactor of several essential hydroxylation reactions which dysfunction cause very serious diseases at any age.
Ayoub Boulghobra, Myriam Bonose, Eskandar Alhajji, Antoine Pallandre, Emmanuel Flamand-Roze, Bruno Baudin, Marie-Claude Menet, Fathi Moussa   +7 more
doaj   +2 more sources

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Tyrosine hydroxylase (TH) catalyses the rate‐limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrine in the central nervous system (CNS), presenting along a continuous spectrum from mild to severe forms ...
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, Roser Pons, Toni S. Pearson, Kathrin Jeltsch, Ivana Badnjarevic, Tessa Wassenberg, Gabriella Horvath, Galina Stevanovic, Manju A. Kurian, Elisenda Cortès‐Saladelafont, Agathe Roubertie, Vincenzo Leuzzi, Mariarita Bertoldi, Mario Mastrangelo, Birgit Assmann, THD Guidelines Working Group, Ines Denzler, Clarisa Maxit, Natalia Alexandra Julia‐Palacios, Shekeeb Mohammad, Helly Goez, Wai‐Ian Yeung, Tomáš Honzík, Ivana Kavecan, Alba Tristán‐Noguero, Alberto Burlina, Daniela Gueraldi, Sushil Bandodkar, Willemsen Michel, Francesco Porta, Sheila Wong, Filippo Manti, Reem Alkhater, Chris Mühlhausen, Alice Kuster, Dimitrios Zafeiriou, Paulo Sgobbi, Wladimir Bocca Vieira de Rezende Pinto, Angeles Garcia‐Cazorla, Thomas Opladen   +41 more
wiley   +2 more sources

Pterin-Based Red Coloration Predicts the Outcome of Male–Male Competition in Guinan Toad-Headed Lizard [PDF]

Animals
Animal coloration offers a unique opportunity to explore the evolutionary mechanisms underlying phenotypic diversity. Conspicuous coloration caused by pigments plays a crucial role in social signaling across multiple species by conveying information ...
Xiao Xiao, Song Tan, Kehu He, Ying Chen, Lin Cui, Bicheng Zhu, Xia Qiu, Yin Qi, Weizhao Yang   +8 more
doaj   +2 more sources

No QTcF Prolongation with Sepiapterin: Results From a Thorough QT Study in Healthy Subjects at Therapeutic and Supratherapeutic Doses [PDF]

The Journal of Clinical Pharmacology, Volume 66, Issue 1, January 2026.
Abstract Sepiapterin and its major metabolite 6R‐L‐erythro‐5,6,7,8‐tetrahydrobiopterin (BH4) bind to distinct variants of phenylalanine hydroxylase (PAH), which converts excess phenylalanine to tyrosine, thereby stabilizing, enhancing, and prolonging PAH activity.
Lan Gao, Hongqi Xue, Borje Darpo, Kimberly Ingalls, Diksha Kaushik, Neil Smith, Ronald Kong, Lee Golden   +7 more
wiley   +2 more sources

Segawa Syndrome, a Dramatic Response to Dopamine [PDF]

Case Reports in Neurological Medicine
Segawa syndrome usually manifests as dystonia, disturbance of gait with fatigue, and may be confused with spasticity. Also known as dopamine-responsive dystonia (DRD), it should be considered in any child who presents with paroxysmal or progressive ...
Omkar Dhungel, Amit Shrestha, Pawan Sharma, Nidesh Sapkota, Raju Paudel   +4 more
doaj   +2 more sources

Pterin-based pigmentation in animals [PDF]

Biology Letters, 2021
Pterins are one of the major sources of bright coloration in animals. They are produced endogenously, participate in vital physiological processes and serve a variety of signalling functions. Despite their ubiquity in nature, pterin-based pigmentation has received little attention when compared to other major pigment classes.
Pedro Andrade, Miguel Carneiro
openaire   +2 more sources