Results 111 to 120 of about 167,513,957 (289)

Teratogenic inborn errors of metabolism [PDF]

Postgraduate Medical Journal, 1986
SummaryMost children with inborn errors of metabolism are born healthy without malformations as the fetus is protected by the metabolic activity of the placenta. However, certain inborn errors of the fetus have teratogenic effects although the mechanisms responsible for the malformations are not generally understood.
openaire   +2 more sources

Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia

, 2016
Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
FORMISANO, PIETRO, ROSSI, ALESSANDRO, RUOPPOLO, MARGHERITA, VILLANI, GUGLIELMO ROSARIO DOMENI, MELIS, DANIELA, Moccia, A., STRISCIUGLIO, PIETRO, Albano, L., Gallo, G., PARENTI, GIANCARLO   +9 more
core  

A randomized controlled trial of a multimodality digital health intervention to aid the delivery of the modified ketogenic diet therapy for epilepsy: The Keto eCoach trial protocol

Epilepsia Open, EarlyView.
Abstract Objective Dietary therapy is an effective treatment for drug‐resistant epilepsy; however, low adherence presents a significant barrier to use in the clinical setting. This study aims to evaluate a multimodality digital health intervention to overcome this barrier and improve outcomes in adults undertaking the modified ketogenic diet for ...
Neha Kaul, Lucy Vivash, Susanna Chen, Lillian King, Hannah Johns, Leonid Churilov, Zhibin Chen, John‐Paul Nicolo, Danielle Heaven, Ella Meredith, Ryan Ervine, Lisa Todd, Bernadette Zappa, Zanfina Ademi, Gopisankar Mohanannair Geethadevi, Michael Erlichster, Efstratios Skafidas, Terence J. O'Brien, Patrick Kwan   +18 more
wiley   +1 more source

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study

Frontiers in Psychiatry
BackgroundClassical galactosemia (CG) is a rare inherited metabolic disorder associated with long-term neurodevelopmental, language, cognitive and psychosocial difficulties.
Aleksandra Gozdanek, Amanda Krzywdzińska-Rogowska, Barbara Remberk, Anna Bauer, Jolanta Sykut-Cegielska   +4 more
doaj   +1 more source

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD   +7 more
doaj   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

Engineering an artificial trachea: Quantitative benchmarks and modular strategies for mechanics, epithelialization, and vascular integration

FlexMat, EarlyView.
In this work, we first examine the limitations of surgical repair and stenting, including migration, granulation, mucus plugging, and infection. We then translate these failures into engineering constraints involving geometry, mechanics, fixation, degradation, junctional stress, and remodeling.
Yiwei Xu, Hanqing Dai, Qianwang Ye, Wanlu Zhang, Na Wang, Lei Xiong, Ruiqian Guo   +6 more
wiley   +1 more source

Modelling Inborn Errors of Metabolism in Zebrafish

, 2014
The majority of human inborn errors of metabolism are fatal multisystem disorders that lack proper treatment and have a poorly understood mechanistic basis.
Russell, C, Wager, K, Mahmood, Fahad, Wager, Kim, Kim Wager, Fahad Mahmood, Russell, Claire, Mahmood, F, Claire Russell   +8 more
core   +1 more source

Diaphragm Ultrasonography Reveals Progressive Changes in Diaphragmatic Function, Morphology, and Muscle Trophism During Invasive Mechanical Ventilation in Children

Journal of Clinical Ultrasound, EarlyView.
Diaphragm ultrasonography detected progressive structural and functional deterioration in mechanically ventilated children. Prolonged invasive mechanical ventilation and neuromuscular blocking agent use were associated with ventilator‐induced diaphragmatic dysfunction, highlighting ultrasound as a valuable bedside tool to support individualized ...
Juliana Bezerra dos Santos, Emmerson Carlos Franco de Farias, Mary Lucy Ferraz Maia Fiuza de Mello, Rodrigo Santiago Barbosa Rocha   +3 more
wiley   +1 more source

CNTF protects oligodendrocytes from ammonia toxicity: Intracellular signaling pathways involved

Neurobiology of Disease, 2009
In pediatric patients, hyperammonemia can provoke irreversible damages to developing CNS like cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities which are concordant with alterations of neurons and ...
Laurène Cagnon, Olivier Braissant
doaj   +1 more source