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Article

Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.

International journal of molecular sciences - 31 Jul 2017

Cameron Jessie M, Levandovskiy Valeriy, Roberts Wendy, Anagnostou Evdokia, Scherer Stephen, Loh Alvin, Schulze Andreas

Abstract excerpt

Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech...

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Source

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Identifiers

PMID: 28758966
DOI: 10.3390/ijms18081665
PMCID: PMC5578055

Genes

GATM
GAMT
MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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