Results 171 to 180 of about 26,802 (257)

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. [PDF]

Pediatr Neurol
Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A.   +45 more
europepmc   +1 more source

Mitochondrial Ca2+ overload is a pivotal risk factor for lethal ventricular arrhythmias due to the oxidation of mitochondrial respirasome and energetic failure

British Journal of Pharmacology, Volume 183, Issue 7, Page 1404-1426, April 2026.
The data that support the findings of this study are available from the corresponding author upon reasonable request. Some data may not be made available because of privacy or ethical restrictions. Background and Purpose Ventricular arrhythmias are a leading cause of death among patients with cardiovascular diseases and are associated with elevated ...
Felipe de Jesús Salazar‐Ramírez, Luis Alberto Luévano‐Martínez, Abraham Méndez‐Fernández, Judith Bernal‐Ramírez, Carolina A. Morales‐Ochoa, Christian Silva‐Platas, Alfredo Cabrera‐Orefice, Ana C. Murrieta, José Luis Velasco‐Bolom, Gricelda Mendiola‐Garza, Flavio Contreras‐Torres, Guillermo Torre‐Amione, Ernesto A. Aiello, Gerardo García‐Rivas   +13 more
wiley   +1 more source

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency. [PDF]

Orphanet J Rare Dis
Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stöckler-Ipsiroglu S, Wallis H.   +29 more
europepmc   +1 more source

Therapeutic targeting of SLC6A8 creatine transporter suppresses colon cancer progression and modulates human creatine levels. [PDF]

Sci Adv, 2021
Kurth I, Yamaguchi N, Andreu-Agullo C, Tian HS, Sridhar S, Takeda S, Gonsalves FC, Loo JM, Barlas A, Manova-Todorova K, Busby R, Bendell JC, Strauss J, Fakih M, McRee AJ, Hendifar AE, Rosen LS, Cercek A, Wasserman R, Szarek M, Spector SL, Raza S, Tavazoie MF, Tavazoie SF.   +23 more
europepmc   +1 more source

Impact of Pharmacokinetic Gene Polymorphisms on Statin‐Induced Myotoxicity in Thai Patients Treated With Simvastatin

Clinical and Translational Science, Volume 19, Issue 4, April 2026.
ABSTRACT Statin‐induced myotoxicity (SIM) is a common adverse effect of simvastatin therapy, which can negatively impact patient adherence and treatment outcomes. This study aims to investigate the impacts of pharmacokinetic (PK) gene polymorphisms on SIM in Thai population treated with simvastatin.
Sayanit Tipnoppanon, Sarawut Siwamogsatham, Yongkasem Vorasettakarnkij, Chonlaphat Sukasem, Pajaree Chariyavilaskul, Patompong Satapornpong, Natchaya Vanwong   +6 more
wiley   +1 more source

Creatine Transporter Deficiency

, 2014
promotiedatum: 19-6-2014 prom-id ...
openaire   +2 more sources

X-linked creatine transporter deficiency [PDF]

, 2020
openaire   +2 more sources

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

Update on diagnosis, nonpharmacological treatment and prevention of Equine Gastric Ulcer Syndrome (EGUS)

Equine Veterinary Education, Volume 38, Issue 4, Page 206-219, April 2026.
Summary The term Equine Gastric Ulcer Syndrome (EGUS) has been used since 1999. As there are important differences, the terms Equine Squamous Gastric Disease (ESGD) and Equine Glandular Gastric Disease (EGGD) were introduced in 2015. Risk factors like dietary management, training regimens and drug side effects, as described for NSAIDs, predispose ...
R. Lensing, A. K. Barton
wiley   +1 more source