Results 181 to 190 of about 6,531 (222)
The FASEB Journal, Volume 40, Issue 10, 31 May 2026.Bats can sustain powered flight, but their reliance on fatty acid oxidation may limit long‐distance migration compared to birds. Using untargeted metabolomics, we analyzed blood metabolites of Nathusius' pipistrelle under controlled flight and migratory field conditions to identify fuel use.
Alesia Walker +7 more
wiley +1 more source
Mouse model for creatine transporter deficiency (CTD) [PDF]
Science-Business eXchange, 2012 openaire +1 more source
Development of A Gene Therapy for Creatine Transporter Deficiency
Cerebral creatine deficiency syndromes are a group of genetic disorders caused by the inability to synthesize or transport creatine, leading to a severe depletion of creatine in the brain. Creatine transporter deficiency is one of the three Cerebral creatine deficiency syndromes caused by loss of function mutations in the X-linked SLC6A8 gene.
openaire +1 more source
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency. [PDF]
Hum Genome Var, 2015 Cervera-Acedo C +6 more
europepmc +1 more source
RESPONSE TO CREATINE ANALOGOUS SUPPLEMENTATION IN CREATINE TRANSPORTER DEFICIENCY
, 2009 Campistol-Plana J +7 more
openaire +2 more sources
Plenary Abstracts Session & Oral Presentations
HemaSphere, Volume 10, Issue S1, June 2026.
wiley +1 more source
Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect. [PDF]
Am J Med Genet APerreault J, Porter FD, Nowaczyk MJM.
europepmc +1 more source