Results 81 to 90 of about 1,686 (146)

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

Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation. [PDF]

J Vet Intern Med
Leonardi H, Minor KM, Fritz J, Friedenberg SG, Cullen JN, Guo LT, Shelton GD.   +6 more
europepmc   +1 more source

Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening. [PDF]

Pediatrics, 2023
Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rose AM, Comeau AM, Tanksley S, Powell CM, Kemper AR.   +10 more
europepmc   +1 more source

Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency: A Sibling Cohort Study. [PDF]

Neurol Genet
Caspi L, Hayeems R, Schulze A.
europepmc   +1 more source

SGLT2 Inhibitors, Muscle Loss, and Creatinine-Based Estimated GFR: An Integrative Conceptual Review of Renoprotection. [PDF]

Kidney Med
Groothof D, Shehab NBN, Post A, Erler NS, Gans ROB, Bakker SJL.   +5 more
europepmc   +1 more source

Mechanistic Insights into SAM-Dependent Methyltransferases: A Review of Computational Approaches. [PDF]

Int J Mol Sci
Jędrzejewski M, Szeleszczuk Ł, Pisklak DM.   +2 more
europepmc   +1 more source

Creatine mitigates neurogenesis impairment caused by defective DcpS decapping. [PDF]

Sci Rep
Yang J, Palsule G, Jiao X, Messenger JS, Hart RP, Kiledjian M.   +5 more
europepmc   +1 more source

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments. [PDF]

Int J Mol Sci
Biagiotti S, Perla E, Guzzo SM, Tolve M, Nardecchia F, Rossi L, Carducci C, Pascucci T, Leuzzi V, Magnani M.   +9 more
europepmc   +1 more source

Metabolomic profiling of host-pathogen interactions: differential effects of Gram-positive and Gram-negative bacterial secretomes on THP-1 macrophage metabolism. [PDF]

RSC Adv
Abuawad A, Romero M, Jarquin SM, Ghaemmaghami AM, Kim DH.   +4 more
europepmc   +1 more source

Guanidino compounds with native GABA(A) δ receptor selectivity: a tale of homeostatic compensation in δ-KO mice. [PDF]

BMC Neurosci
Meera P, Uusi-Oukari M, Wallner M, Lipshutz GS.   +3 more
europepmc   +1 more source