Results 61 to 70 of about 2,992 (185)
Why dried blood spots are an ideal tool for CYP1A2 phenotyping [PDF]
, 2014 Background and Objective: Dried blood spot (DBS) sampling has gained wide interest in bioanalysis during the last decade and has already been successfully applied in pharmacokinetic and phenotyping studies.
De Kesel, Pieter +2 more
core +2 more sources
Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants
Movement Disorders, Volume 41, Issue 1, Page 84-94, January 2026.Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger +39 more
wiley +1 more source
Toxicological Characterization of GHB as a Performance-Enhancing Drug
Frontiers in Psychiatry, 2022 Performance-enhancing drugs (PEDs) are represented by several compounds used to ameliorate the image, the appearance, or an athletic or non-athletic performance.
Arianna Giorgetti +2 more
doaj +1 more source
Narcolepsy: Pathophysiology, Diagnosis, Management, and Future Directions, a Narrative Review
Brain and Behavior, Volume 15, Issue 12, December 2025.This visual summary outlines the pathophysiology of narcolepsy, driven by hypocretin loss, and details its clinical diagnosis, current management strategies, and the shift toward future disease‐modifying therapies like orexin agonists and immunomodulation.
Natasha Elaine Hastings +12 more
wiley +1 more source
Prolonged Detection of GHB Intake in Urine: Are We Finally There?
Drug Testing and Analysis, Volume 17, Issue 12, Page 2429-2446, December 2025.In a randomised placebo‐controlled trial with 30 volunteers, urinary LC‐MS/MS analysis demonstrated that a tentative GHB‐pentose conjugate remained elevated in urine up to 72 h post‐administration. This biomarker showed clear distinction from placebo and may offer extended detection compared to GHB itself, representing a significant step forward in ...
Kathrine B. Faldborg +4 more
wiley +1 more source
, 2007 BACKGROUND: Narcolepsy is a chronic neurological syndrome with prevalence between 0.018% and 0.040% without important ethnic differences. Narcolepsy is characterized by excessive daytime sleepiness and cataplexy. The pathophysiology of the illness is not
Bittencourt, Lia Rita Azeredo +4 more
core +3 more sources
Treatment of Neurogenic Voice Disorders
World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 541-547, December 2025.ABSTRACT This overview serves as a foundational resource for clinicians caring for neurologically complex patients presenting with voice complaints. Neurogenic voice disorders are diverse in their clinical presentations and therapeutic approaches. A thorough medical history, including family history, detailed laryngeal examination, voice assessments ...
Mausumi Syamal
wiley +1 more source
Safety and efficacy of long-term use of sodium oxybate for narcolepsy with cataplexy in routine clinical practice [PDF]
, 2017 Background Sodium oxybate is licensed in Europe for the treatment of narcolepsy with cataplexy in adults. The aim of this study was to assess the efficacy and safety of sodium oxybate in clinical practice in patients with narcolepsy and cataplexy ...
D'Ancona, Grainne +11 more
core +3 more sources
World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley +1 more source
Basic &Clinical Pharmacology &Toxicology, Volume 137, Issue 6, December 2025.ABSTRACT Gamma‐hydroxybutyric acid (GHB), a potential agent in drug‐facilitated sexual assault, is difficult to detect due to rapid elimination, endogenous presence, and possible postsampling formation. We conducted a randomised, placebo‐controlled trial in 30 healthy volunteers, administering 50‐mg/kg sodium oxybate or placebo, to investigate symptoms,
Kathrine Bohn Faldborg +3 more
wiley +1 more source