Results 171 to 180 of about 15,296 (267)

Post‐exercise ketone supplementation improves endurance performance and mitochondrial adaptations during an 8‐week endurance training intervention

The Journal of Physiology, EarlyView.
Abstract figure legend Twenty‐eight trained males completed 8 weeks of supervised indoor cycling training, receiving post‐exercise and pre‐sleep ketone monoester (KE, n = 14) or isocaloric placebo (CON, n = 14). Both groups improved 30 min time‐trial performance with training, but KE achieved a 4% higher power output than CON at the end of the training
Ruben Robberechts, Youri Bekhuis, Myrthe Stalmans, Wout Lauriks, Martijn Kusters, Karim Taha, Thomas Rosseel, Guido Claessen, Chiel Poffé   +8 more
wiley   +1 more source

Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts. [PDF]

PLoS One
Wells C, Sorgenfrei J, Johnson SL, Albertson D, Rutter J, Baker SA.   +5 more
europepmc   +1 more source

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model. [PDF]

Genet Med, 2021
Levin MD, Bianconi S, Smith A, Cawley NX, Do AD, Hammond D, Grafstein JF, Thurm A, Miller J, Perreault J, Noguchi A, Springer D, Kozel BA, Spurney CF, Wassif CA, Yu ZX, Schulze A, Porter FD, Hannah-Shmouni F.   +18 more
europepmc   +1 more source

Preclinical 1H MRS Study of a Porcine Model Shows Evidence and Mechanisms for Acute Neuronal Injury in Neonatal Cardiopulmonary Bypass (CPB) Surgery

Magnetic Resonance in Medicine, Volume 96, Issue 2, Page 557-567, August 2026.
ABSTRACT Purpose Congenital heart disease affects 1% of US births, with some infants requiring cardiothoracic surgery under cardiopulmonary bypass (CPB). Optimal surgical parameters to minimize neuronal injury are unknown. We used serial 1H MRS in a neonatal CPB porcine model to assess acute neuronal damage and associated injury mechanisms.
Aaron Omon, Meng Gu, Ralph Hurd, Kirk Riemer, Frank Hanley, Daniel Spielman   +5 more
wiley   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency. [PDF]

Front Neurosci
Wallis H, Iyer S, Reinhardt EK.
europepmc   +1 more source

Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability. [PDF]

BMJ Case Rep, 2020
Jangid N, Surana P, Salmonos G, Jain V.
europepmc   +1 more source

Metabolic Fingerprints of High‐Risk Individuals for Pancreatic Cancer: A Multibiospecimen Investigation

Analysis &Sensing, Volume 6, Issue 4, July 2026.
This study presents a multimatrix untargeted metabolomics analysis of fecal, plasma, and urine samples from individuals at high risk for pancreatic cancer development. Integrated multivariate and cofactor‐adjusted models were applied to characterize cross‐matrix metabolomic associations, incorporating pancreatic magnetic resonance imaging data, sex ...
Vladyslav Dovhalyuk, Quang‐Dong Bui, Vincent Ripoll, Wiktor Rutkowski, Miroslav Vujasinovic, J.‐Matthias Löhr, Daniel Globisch   +6 more
wiley   +1 more source

Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency. [PDF]

ACS Chem Biol
Gechijian LN, Muncipinto G, Rettenmaier TJ, Labenski MT, Rusu V, Rosskamp L, Conway L, van Kalken D, Gross L, Iantosca G, Crotty W, Mathis R, Park H, Rabin B, Westgate C, Lyons M, Deshusses C, Brandon N, Brown DG, Blanchette HS, Pullen N, Jones LH, Barrish JC.   +22 more
europepmc   +1 more source

Neuroprotective Effects of Biosynthetic d‐Calcium Pantothenate and Cyanocobalamin Against MPTP‐Induced Parkinsonism via Microbiota Modulation, Metabolic Homeostasis Restoration, and Endoplasmic Reticulum Stress Inhibition

Food Frontiers, Volume 7, Issue 4, July 2026.
Biosynthetic D‐calcium pantothenate and cyanocobalamin alleviate MPTP‐induced Parkinsonism in mice by modulating gut microbiota, restoring metabolic homeostasis, and inhibiting Endoplasmic Reticulum Stress. ABSTRACT Vitamin B5 (VB5) and Vitamin B12 (VB12) are essential micronutrients widely distributed in functional foods, yet their neuroprotective ...
Yaru Chen, Shaohui Zhu, Yajie Ruan, Kaiqi Zheng, Jing Wang, Qianqian Guan, Tao Xiong   +6 more
wiley   +1 more source