Results 141 to 150 of about 36,711 (394)

Glycine <i>N</i>-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism. [PDF]

open access: yesJIMD Rep
ABSTRACT The enzyme glycine N‐acyltransferase (GLYAT) plays a crucial role in detoxifying both xenobiotic and endogenous compounds that contain a carboxylic acid group, such as benzoic acid. Data on the impact of human GLYAT on the glycine conjugation pathway is limited and difficult to determine.
Nourbakhsh M   +13 more
europepmc   +2 more sources

A prediction model for genetic cholestatic disease in infancy using the machine learning approach

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
Diagnostic algorithm for cholestatic infants. Abstract Objectives Cholestasis in infancy poses a complex clinical conundrum for pediatric hepatologists, warranting timely diagnosis, especially for genetic diseases. This study aims to create machine learning (ML)‐based prediction models, referred to as Jaundice Diagnosis Easy for Baby (JADE‐B), to ...
Chi‐San Tai   +9 more
wiley   +1 more source

Porto‐sinusoidal vascular disorder in a pediatric patient with prolidase deficiency: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Prolidase deficiency (PD) is a rare autosomal recessive disorder affecting collagen turnover, leading to diverse clinical manifestations including dermatologic lesions, hepatosplenomegaly, and vascular anomalies. Liver involvement in PD is poorly understood, with few reported cases.
Melissa Castro   +5 more
wiley   +1 more source

Electrokinetic Manipulations Combined With Direct and Ambient Ionization Mass Spectrometry

open access: yesMass Spectrometry Reviews, EarlyView.
ABSTRACT Mass spectrometry (MS) is a powerful analytical technique that typically involves sample preparation and online analytical separation before MS detection. Traditional methods often face bottlenecks in sample preparation and analytical separation, despite the rapid detection capabilities of MS.
Nicholas E. Manicke   +2 more
wiley   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

open access: yesMass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt   +2 more
wiley   +1 more source

Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

open access: yesMovement Disorders, EarlyView.
Abstract Background Deep brain stimulation of the globus pallidus internus (DBS‐GPi) has shown efficacy in adult patients with SGCE‐related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives The aim was to evaluate motor and non‐motor outcomes following DBS‐GPi intervention in children and ...
Ainara Salazar‐Villacorta   +23 more
wiley   +1 more source

Identification and functional dissection of maize disease resistance genes

open access: yesNew Plant Protection, EarlyView.
The review summarizes recent research advances in the cloning and functional analysis of maize resistance genes and discusses new approaches that may facilitate these research processes, aiming to provide references for future studies. Abstract Maize (Zea mays L.) serves as a staple food in numerous countries and is also used as a raw material for ...
Hongliang Wu   +6 more
wiley   +1 more source

Comparing the Audiological Success of Bone Cement to Standard Ossiculoplasty Techniques: A Systematic Review and Meta‐analysis

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To compare the audiological success and longevity of bone cement to standard ossiculoplasty techniques. Data Sources PubMed, Embase, Cochrane Library, Medline, and the Web of Science were systematically searched for studies from the date of inception to November 8, 2024.
Natasha Dowell   +4 more
wiley   +1 more source

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