Results 71 to 80 of about 26,955 (257)

Dried Blood Spot Analysis for Simultaneous Quantification of Antiepileptic Drugs Using Liquid Chromatography–Tandem Mass Spectrometry

open access: yesRapid Communications in Mass Spectrometry, Volume 39, Issue 16, 30 August 2025.
ABSTRACT Rationale Dried blood spot (DBS) sampling for the therapeutic drug monitoring of antiepileptic drugs offers practical advantages, including minimal invasiveness and ease of collection. However, for precise therapeutic management, its accuracy and reliability in quantification need to be validated.
Mariam M. Abady   +2 more
wiley   +1 more source

MODERN PRINCIPLES OF DIET ORGANIZATION IN CHILDREN IN DIFFERENT AGE WITH PHENYLKETONURIA

open access: yesВопросы современной педиатрии, 2010
The article reports questions of diet organization in children with phenylketonuria in different age with the use of modern specialized food. Authors give examples of calculation of diet based on new norms of needs in energy and food for different groups
T.V. Bushuyeva, T.E. Borovik
doaj   +2 more sources

A Causal Inference Study of Circulating Metabolites Mediating the Effect of Obesity‐Related Indicators on the Incidence of Anxiety Disorders

open access: yesBrain and Behavior, Volume 15, Issue 7, July 2025.
This Mendelian randomization study reveals that higher body fat percentage increases anxiety disorder risk (OR = 1.14), while certain obesity phenotypes show protective effects (OR = 0.90). Three key circulating metabolites—phenylalanine, the free cholesterol to total lipids ratio in very small VLDL, and the linoleic acid ratio—mediate these ...
Cheng Qin, Wenbin Gai
wiley   +1 more source

Inhibiting neutral amino acid transport for the treatment of phenylketonuria.

open access: yesJCI Insight, 2018
The neuropathological effects of phenylketonuria (PKU) stem from the inability of the body to metabolize excess phenylalanine (Phe), resulting in accumulation of Phe in the blood and brain. Since the kidney normally reabsorbs circulating amino acids with
A. Belanger   +8 more
semanticscholar   +1 more source

N‐Lactoyl Amino Acids: Emerging Biomarkers in Metabolism and Disease

open access: yesDiabetes/Metabolism Research and Reviews, Volume 41, Issue 5, July 2025.
ABSTRACT N‐lactoyl amino acids (Lac‐AA) form an emerging class of metabolites that have gained significant attention in recent years due to their ubiquitous presence in different biological systems and potential roles in various biochemical processes. This narrative review aims to provide a comprehensive overview of the current understanding of Lac‐AA,
Khaled Naja   +4 more
wiley   +1 more source

Developmental Disturbances in Animal Models of Autism Spectrum Disorder

open access: yesDevelopmental Neurobiology, Volume 85, Issue 3, July 2025.
ABSTRACT Although the early signs of autism spectrum disorder (ASD) are widely studied, the significant ambiguity and heterogeneity in symptoms require the comparison of available models, approaches, and the search for common denominators and key indicators.
Kristof Laszlo   +3 more
wiley   +1 more source

Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria

open access: yesDevelopmental Neuropsychology, 2016
This systematic review and meta-analysis (MA) investigates the impact of elevated blood phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU).
Deborah A Bilder   +7 more
semanticscholar   +1 more source

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g., tyrosinemia type I), there are clear and substantial health benefits of NBS, while for others (e.g., very long chain acyl CoA dehydrogenase deficiency and 3 ...
Mirjam Langeveld   +9 more
wiley   +1 more source

Food insecurity in females with phenylketonuria

open access: yesJIMD Reports, 2020
Summary Phenylketonuria (PKU) is a genetic disorder characterized by insufficient metabolism of phenylalanine. Depending on severity, patients follow a low‐phenylalanine diet and may consume medical food (MF) and low‐protein modified foods; dietary and ...
Kathryn E. Coakley   +4 more
doaj   +1 more source

Enhancing Functional Protein Design Using Heuristic Optimization and Deep Learning for Anti‐Inflammatory and Gene Therapy Applications

open access: yesProteins: Structure, Function, and Bioinformatics, Volume 93, Issue 7, Page 1238-1256, July 2025.
ABSTRACT Protein sequence design is a highly challenging task, aimed at discovering new proteins that are more functional and producible under laboratory conditions than their natural counterparts. Deep learning‐based approaches developed to address this problem have achieved significant success.
Ayşenur Soytürk Patat   +1 more
wiley   +1 more source

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