Results 121 to 130 of about 6,531 (222)
Creatine deficiency syndromes and the importance of creatine synthesis in the brain
, 2011 Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy.
Uldry, J. +7 more
core +1 more source
Andrology, EarlyView.ABSTRACT Background Infertility is a pressing global health concern, affecting one in six couples worldwide. The failure rate for assisted reproductive technologies (ART) cycles remains at approximately 78%, with limited improvements often attributed to a lack of technological innovation.
Mehran Dabiri +3 more
wiley +1 more source
Molecular and Cellular PediatricsBackground Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a
Christina Kaufman +5 more
doaj +1 more source
Biochemical and clinical characteristics of creatine deficiency syndromes.
, 2004 Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and guanidinoacetate methyltransferase (GAMT) deficiency) and of creatine transport (creatine ...
Sykut-Cegielska, Jolanta +3 more
core
Equine Veterinary Education, EarlyView.Summary Air embolism is rare in horses and typically associated with complications following intravenous catheterisation or other medical procedures. Exercise‐induced pulmonary haemorrhage (EIPH) is common in racehorses but not usually associated with air embolism. This report describes a case of air embolism in a 4‐year‐old Thoroughbred with EIPH. The
J. Wittenberg +7 more
wiley +1 more source
Equine Veterinary Journal, EarlyView.Abstract Background Arsenic poisoning in horses is rarely reported in the literature. However, arsenic compounds can be present in rodenticides, pesticides, and herbicides, representing a potential source of accidental exposure for horses. Objective To describe the epidemiological, clinical, and laboratory findings from a herd of 31 horses exposed to ...
Gabriella Faria Pereira +7 more
wiley +1 more source
Creatine deficiency syndromes and the importance of creatine synthesis in the brain [PDF]
, 2018 Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy.
Braissant, Olivier +3 more
core
The FEBS Journal, EarlyView.Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo +4 more
wiley +1 more source
Scientific ReportsPathogenic variants in the creatine transporter gene SLC6A8, reported to represent 2% of all intellectual disabilities in males, result in a spectrum of behavioral abnormalities including developmental delay, intellectual disability, and deficit in ...
Isabel Day +8 more
doaj +1 more source