Results 81 to 90 of about 6,531 (222)

A case of atypical systemic primary carnitine deficiency in Saudi Arabia

Pediatric Reports, 2018
Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on
Abdulrahman Alghamdi, Hani Almalki, Aiman Shawli, Rahaf Waggass, Fahad Hakami   +4 more
doaj   +1 more source

Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements

, 2015
BACKGROUND: Creatine transporter (SLC6A8) deficiency is an X-linked inborn error of metabolism characterized by cerebral creatine deficiency, behavioral problems, seizures, hypotonia, and intellectual developmental disability.
Mignone, Cristina, Newlove, Theresa, Elango, Rajavel, van Karnebeek, Clara D. M., Jaggumantri, Sravan, Edgar, Vanessa, Collet, Jean Paul, Dunbar, Mary, Sargent, Michael, Stockler-Ipsiroglu, Sylvia   +9 more
core   +1 more source

Pt‐TiO2 mesoporous nanosystem co‐delivering phlorezin enables synergistic sonodynamic‐chemoimmunotherapy for hepatocellular carcinoma via directly targeting DDX5 and metabolic reprogramming modulation

BMEMat, EarlyView.
Abstract Hepatocellular carcinoma (HCC), ranking as the third leading cause of cancer‐related mortality globally, continues to pose significant therapeutic challenges. Here, we developed an innovative nanosystem, Phl@PT, based on Pt‐TiO2 nanoparticles for the co‐delivery of Phlorezin, presenting a novel approach for HCC treatment through sonodynamic ...
Kairui Liu, Bo Zhang, Yue Wan, Zhiru Yang, Abdusami Abdurahman, Mengxin He, Shengtao Hu, Yi Zhang, Xiaoke Li, Jin Chang, Jun Kang, Liren Liu, Wanghua Liu, Shao Li   +13 more
wiley   +1 more source

Mitochondria‐endoplasmic reticulum organelle glue as maturation promoter for origination/dimensional dual‐cross cardiomyocytes

BMEMat, EarlyView.
Mitochondria‐endoplasmic reticulum contact sites (MERCS) are areas where the mitochondria and endoplasmic reticulum closely interact. In this study, we utilize synthetic organelle glues to artificially engineer MERCS for regulating cardiomyocyte development, through which the immature and chemo‐plasticity issues of undifferentiated cells are addressed.
Wei Tang, Hao Sun, Chenqi Duan, Jiajia Chang, Yuxing Wang, Ming Zhao, Huiyue Zhao, Shan Lu, Yang Yang, Da Huo   +9 more
wiley   +1 more source

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, EarlyView.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +1 more source

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li, Max Homilius, Erin Achilles, Laura K. Massey, Victoria Convey, Åsa Ohlsson, Ingrid Ljungvall, Jens Häggström, Brittany Vester Boler, Pascal Steiner, Sharlene Day, Calum A. MacRae, Mark A. Oyama   +12 more
wiley   +1 more source

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

Epileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca, Antonella Riva, Samuel López‐Maza, Malin Zaddach, Marie‐Claire Porter, Ingo Borggraefe, Lance Watkins, Andreas Schulze‐Bonhage, Rohit Shankar, Pasquale Striano, Lina Nashef   +10 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Synthesis and Biological Evaluation of New Creatine Fatty Esters Revealed Dodecyl Creatine Ester as a Promising Drug Candidate for the Treatment of the Creatine Transporter Deficiency

, 2016
The creatine transporter deficiency is a neurological disease caused by impairment of the creatine transporter SLC6A8, resulting in mental retardation associated with a complete absence of creatine within the brain and cellular energy perturbation of ...
Aloïse Mabondzo (1942075), Alexandra Trotier-Faurion (1942078), Frédéric Taran (1688335), Vassili Valayannopoulos (1942084), Pascale de Lonlay (1942081), Sophie Dézard (1942072)   +5 more
core   +1 more source