There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Creatine is physiologically provided equally by diet and by endogenous synthesis from
arginine and glycine with successive involvements of arginine glycine amidinotransferase …

Athletes, body builders, and military personnel use dietary creatine as an ergogenic aid to
boost physical performance in sports involving short bursts of high-intensity muscle activity …

J. Neurochem.(2010) 115, 297–313. Abstract Apart of its well known function of 'energetic
buffer'through the creatine/phosphocreatine/creatine kinase system allowing the …

Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis
pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong …

Creatine (Cr) is an important organic compound acting as intracellular high-energy
phosphate shuttle and in energy storage. While located in most cells where it plays its main …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine
metabolism comprising two autosomal recessive disorders that affect the biosynthesis of …

Creatine deficiency syndromes (CDS) are inherited metabolic disorders caused by
mutations in GATM, GAMT and SLC6A8 and mainly affect central nervous system (CNS) …

Autism is an etiologic heterogeneous entity caused by many different diseases occurring in
the central nervous system at an early stage in life. Several metabolic defects have been …