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Article

[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].

Medicina clinica - 21 Nov 2009

Sempere Angela, Fons Carmen, Arias Angela, Rodríguez-Pombo Pilar, Merinero Begoña, Alcaide Patricia, Capdevila Antoni, Ribes Antonia, Duque Rosario, Eirís Jesús, Poo Pilar, Fernández-Alvarez Emilio, Campistol Jaume, Artuch Rafael

Abstract excerpt

BACKGROUND AND OBJECTIVE: Brain creatine (Cr) deficiencies are a group of inborn errors of metabolism that are characterized by an absence or severe reduction of brain Cr. Clinically, these patients can display psychomotor/mental retardation and language disorders, commonly associated with epilepsy or movement disorders. Three metabolic defects are known: two affect synthesis - guanidinoacetate metiltransferase...

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Identifiers

PMID: 19892372
DOI: 10.1016/j.medcli.2009.06.065

Genes

GAMT

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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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