Results 51 to 60 of about 7,483 (223)

Systematic Multi‐Trait Study of Genetic Correlation and Causality Relationships Between General Medical Conditions and Mental Disorders

Acta Psychiatrica Scandinavica, EarlyView.
ABSTRACT Introduction Increasing evidence has highlighted bidirectional associations between mental disorders and general medical conditions, with underlying causes ranging from lifestyle habits and side effects from medications to genetic contributions. Novel methods now provide a way to estimate the shared genetic underpinnings and the possibility of
Ron Nudel, Maria Da Re, Michael E. Benros   +2 more
wiley   +1 more source

A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics

Annals of Human Genetics, EarlyView.
Abstract The paper explores Lionel Penrose's scientific work. Penrose investigated the causes of mental disorders from clinical and genetic points of view. His investigations on phenylketonuria and Down syndrome helped to demonstrate the heterogenous character of mental disorders, whose causes can range from genetic with high penetrance, to largely ...
Maria Kiladi
wiley   +1 more source

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

Rapid 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, Ji‐Seon Jeong, Ha‐Jeong Kwon   +2 more
wiley   +1 more source

Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles

Iranian Journal of Medical Sciences, 2018
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from ...
Reza Alibakhshi, Keivan Moradi, Mostafa Biglari, Samaneh Shafieenia   +3 more
doaj  

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

Diabetes/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, Laila Hedaya, Asma A. Elashi, Manfredi Rizzo, Mohamed A. Elrayess   +4 more
wiley   +1 more source

Developmental Disturbances in Animal Models of Autism Spectrum Disorder

Developmental 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, Zuzana Bacova, Dora Zelena, Jan Bakos   +3 more
wiley   +1 more source

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

Journal 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, Sandra Sirrs, Daphne H. Schoenmakers, Timothy Fazio, Melanie M. van der Klauw, Francois Maillot, Reena Sharma, Christel Tran, Athanasia Ziagaki, Fanny Mochel   +9 more
wiley   +1 more source

Evolution of the screening program for congenital hypothyroidism and phenylketonuria in Sergipe State from 1995 to 2003 [PDF]

, 2004
Avaliamos o tempo gasto nas diferentes etapas do Programa de Triagem para o Hipotireoidismo Congênito (HC) e Fenilcetonúria (PKU), sua cobertura e a freqüência em Sergipe, de 1998 a 2003, e comparamos com 1995.
Oliveira, Carla Raquel Pereira, Oliveira, Manuel Herminio de Aguiar, Ramalho, Antônio Roberto de Oliveira, Ramalho, Roberto Jose Rabelo   +3 more
core   +1 more source

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

Proteins: 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, Özkan Ufuk Nalbantoğlu   +1 more
wiley   +1 more source

Prueba bioquímica al recién nacido

Revista Cubana de Medicina General Integral, 2003
En estudios realizados del screening metabólico se han detectado en nuestra área muestras incorrectas que han sido rechazadas y por tanto ha sido necesaria su repetición.
Paulina Sánchez Pita, Jorge M. Pérez López, Julia Remigio Rabeiro   +2 more
doaj