Results 171 to 180 of about 167,513,957 (289)

Effects of lifelong sulforaphane intake on behavioural, neurochemical and biomolecular dysfunctions in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders

British Journal of Pharmacology, EarlyView.
Created in BioRender. Schiavone, S. (2026). https://BioRender.com/cy0xq6z. Abstract Background and Purpose Autism spectrum disorders (ASD) are multifactorial neurodevelopmental conditions associated with oxidative stress and neuroinflammation across critical developmental periods.
Vladyslav Sikora, Maria Bove, Lisa Pia Agosti, Rossella Pia Palmieri, Mohsin Zafar, Paolo Tucci, Maria Grazia Morgese, Stefania Schiavone, Luigia Trabace   +8 more
wiley   +1 more source

Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms. [PDF]

Ann Afr Med
Sadaria R.
europepmc   +1 more source

Highly potent, brain‐penetrant EP2 receptor antagonists for the treatment of permanent focal cerebral ischaemia in male and female mice

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Cerebral ischaemia is a leading cause of death in older adults and imposes a substantial global economic burden. Recent studies indicate that inhibiting the Gαs‐coupled EP2 receptor reduces ischaemic brain injury by modulating neuroinflammation.
Zhen Jin, Chenyao Jiang, Eun Bee Cho, M. Dennis Leo, Jiukuan Hao, Jiawang Liu, Ying Yu, Jianxiong Jiang   +7 more
wiley   +1 more source

Disordered eating in diet-treated inborn errors of metabolism: screening and behavioral insights. [PDF]

Orphanet J Rare Dis
LoPiccolo MK, Cinnamon C, Donnelly C, Ginevic I, Waite J, Donnelly S, Ma M, Staccone C, Estrella L, Weinberg A, Hildebrandt T, Breilyn MS.   +11 more
europepmc   +1 more source

Histopathologic Characterization of Cutaneous Oxalosis Mimicking Calciphylaxis: Diagnostic Pitfalls and Polarized Light Evaluation

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous oxalosis is an uncommon manifestation of primary hyperoxalosis, which can often resemble other cutaneous manifestations of end stage renal disease (ESRD), particularly calciphylaxis. We report the case of a 46 year old female with primary hyperoxaluria type one (PH1) believed to be well‐controlled on lumasiran, a small interfering ...
Shrina Patel, Brad Graham, Kaci Reaves, Mya Phelps   +3 more
wiley   +1 more source

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +4 more
europepmc   +1 more source

The Kidney Involvement In Inborn Errors Of Metabolism

, 2017
Inborn errors of metabolism are characterized by a significant heterogeneity in pathophysiological mechanisms and clinical manifestations. A variety of kidney disorders, inherited or acquired, can consist clinical signs of metabolic disorders.
Evangeliou, A. (Athanasios), Gogou, M. (Maria), Tramma, D. (Despoina)   +2 more
core  

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Seeking stability for gene addition in inborn errors of metabolism. [PDF]

Mol Ther Nucleic Acids
von Beck T, Koeberl DD.
europepmc   +1 more source

Pathophysiology of developmental and/or epileptic encephalopathy with spike–wave activation in sleep: A diagnostic framework

Developmental Medicine &Child Neurology, EarlyView.
This review integrates emerging evidence on the pathophysiology of D/EE‐SWAS, highlighting the role of disrupted sleep homeostasis and thalamocortical network dysfunction. We propose a clinically applicable diagnostic framework that combines sleep EEG, structural imaging, genomic testing and longitudinal neuropsychological assessment to improve ...
Aysha Rasheed, Shivani Sekar, Rameez Naqvi, Manidipa Dutta, Manal Issa, Angeliki Menounou, Deepa Krishnakumar, Thiloka Ratnaike   +7 more
wiley   +1 more source