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Article

Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.

Journal of the neurological sciences - 15 Apr 2005

Torremans An, Marescau Bart, Possemiers Ilse, Van Dam Debby, D'Hooge Rudi, Isbrandt Dirk, De Deyn Peter Paul

Abstract excerpt

Deficiency of guanidinoacetate N-methyltransferase (GAMT) is the first described creatine (CT) deficiency syndrome in man, biochemically characterized by accumulation of guanidinoacetic acid (GAA) and depletion of CT. Patients exhibit severe developmental and muscular problems. We created a mouse model for GAMT deficiency, which exerts biochemical changes comparable with those found in human GAMT-deficient...

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Source

Identifiers

PMID: 15792821
DOI: 10.1016/j.jns.2004.12.014

Genes

GAMT
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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