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Article

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.

Journal of inherited metabolic disease - 1 Feb 2006

Anselm I A, Anselm I M, Alkuraya F S, Salomons G S, Jakobs C, Fulton A B, Mazumdar M, Rivkin M, Frye R, Poussaint T Young, Marsden D

Abstract excerpt

We report two unrelated boys with the X-linked creatine transporter defect (CRTR) and clinical features more severe than those previously described with this disorder. These two boys presented at ages 12 and 30 months with severe mental retardation, absent speech development, hypotonia, myopathy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16601897
DOI: 10.1007/s10545-006-0123-4
PMCID: PMC2393549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16601897-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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