Results 191 to 200 of about 6,531 (222)

Creatine Supplementation in Preclinical Models Receiving Immune Checkpoint Inhibitor Therapy: A Systematic Review. [PDF]

Cureus
Shin J, Neupane R, Lopes G, Hussein A, Ricci T, Kesselman MM.   +5 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

Creatine uptake promotes dendritic cell activation and enhances antitumor immunity. [PDF]

iScience
Kang E, Elsten-Brown J, Wang YC, Lam A, Sanchez E, Wen R, Wang T, Chiang J, Scarborough Q, Li YR, Zhu Y, Huang J, Williams M, Eckl S, Li B, Yang L.   +15 more
europepmc   +1 more source

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency. [PDF]

Int J Mol Sci
Binsfeld R, Webster T, Tkachyova I, Tropak M, Mitchell M, Peretti T, Schulze A, Walia JS.   +7 more
europepmc   +1 more source

Genetic Determinants of Creatine Bioavailability and Responsiveness: Emphasis on Common Low-Impact Variants.

Lifestyle Genom
Ostojic SM, Kavecan I.
europepmc   +1 more source

Epilepsy spectrum in cerebral creatine transporter deficiency. Genothype correlation

, 2008
Fons, C, Sanmarti, F, Sempere, A, Poo, P, Pineda, M, Arias, A, Ribes, A, Artuch, R, Vilaseca, MA, Campistol, J   +9 more
openaire   +2 more sources

Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency

Neuroscience Letters, 2018
Creatine is pivotal in energy metabolism of the brain. In primary creatine deficiency syndromes, creatine is missing from the brain. Two of them (AGAT and GAMT deficiency) are due to impaired creatine synthesis, and can be treated by creatine supplementation.
Enrico Adriano, Annalisa Salis, Gianluca Damonte   +2 more
exaly   +4 more sources

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Congenital Creatine Transporter Deficiency

Neuropediatrics, 2002
Two inborn errors of metabolism of creatine synthesis as well as the X-linked creatine transporter (SLC6A8) deficiency have been recognized. This report describes the features of five identified male patients and their female relatives who are carriers of the X-linked creatine transporter deficiency syndrome.Proton MR spectroscopy was used to recognize
G S Salomons, Kim M Cecil, M B Schapiro
exaly   +3 more sources

Creatine transport and pathological changes in creatine transporter deficient mice

Journal of Inherited Metabolic Disease, 2021
AbstractThe severe impact on brain function and lack of effective therapy for patients with creatine (Cr) transporter deficiency motivated the generation of three ubiquitous Slc6a8 deficient mice (−/y). While each mouse knock‐out line has similar behavioral effects at 2 to 3 months of age, other features critical to the efficient use of these mice in ...
Adam M. Wawro, Chandresh R. Gajera, Steven A. Baker, Jeffrey J. Nirschl, Hannes Vogel, Thomas J. Montine   +5 more
openaire   +2 more sources

Creatine transporter deficiency in two half‐brothers

American Journal of Medical Genetics, Part A, 2010
AbstractX‐linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene. Here, we report two half‐brothers with this condition and characterize creatine transport in human fibroblasts. The propositus presented at 6 months of age with delays in development and slow progress since then with no ...
Orly Ardon, Cristina Amat Di San Filippo, Nicola Longo   +2 more
exaly   +5 more sources