Results 91 to 100 of about 30,878 (268)

Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy‐related ...
Marta Gil‐González, Carolina Arias, Jean‐Marie Saudubray, Roser Colomé‐Roura, Ángeles García‐Cazorla   +4 more
wiley   +1 more source

Investigation of Demographic Indicators of Phenylketonuria Patients and Determining the Reasons for Their Referral to Rehabilitation Centers

پزشکی بالینی ابن سینا, 2020
Background and Objective: Phenylketonuria is one of the most common metabolic disorders which causes brain abnormalities in children if they do not receive treatment or their treatment is delayed or ineffective. In this regard, the present study aimed to
Zahra Mortazavi, Seyed Sadegh Salehi Sadati, Malihe Safari, Nasrin Gohari, Saideh Sadat Mortazavi   +4 more
doaj  

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

Acta Psychiatrica Scandinavica, Volume 152, Issue 3, Page 236-249, September 2025.
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

Evaluation of Personal-Social Developmental Skills Levels in Children with Early Treated Phenylketonuria

Journal of Rehabilitation, 2013
Objective: This Study aimed to investigate the level of personal-social developmental skills in 1-4 years old children with early treated phenylketonuria.
Zahra Ghadbeigi, Firouzeh Sajedi, Akbar Biglariyan, Gita Movallali, Sepideh Nazi   +4 more
doaj  

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

Treatment of Phenylketonuria with a Diet Low in Phenylalanine [PDF]

, 1955
L. I. Woolf, Ruth Griffiths, Alan Moncrieff   +2 more
openalex   +1 more source

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

Annals of Human Genetics, Volume 89, Issue 5, Page 285-292, September 2025.
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

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments

Frontiers in Psychiatry, 2019
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in significant hyperphenylalaninemia, which leads to alterations in cerebral myelin ...
Killian Ashe, Wendy Kelso, Sarah Farrand, Julie Panetta, Tim Fazio, Tim Fazio, Gerard De Jong, Gerard De Jong, Mark Walterfang, Mark Walterfang, Mark Walterfang   +10 more
doaj   +1 more source

An Improved Test for Phenylketonuria [PDF]

, 1959
Chauncey O. Rupe, Alfred H. Free
openalex   +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