Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

Pediatric neurology - 1 Feb 2017

Heussinger Nicole, Saake Marc, Mennecke Angelika, Dörr Helmuth-Günther, Trollmann Regina

Abstract excerpt

BACKGROUND: The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. The clinical phenotype ranges from mild to severe intellectual disability, epilepsy, short stature, poor language skills, and autism spectrum disorders. The objective of this study was to investigate phenotypic variability in the context of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Atrophy
Share to Brain Diseases, Metabolic, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Creatine

Share to Intellectual Disability

Share to Mutation, Missense

Share to Nerve Tissue Proteins

Share to White Matter

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 28065824
DOI: 10.1016/j.pediatrneurol.2016.10.007

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.PMID 28065824Read ↗

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.Semantic proximity Read ↗

Creatine transporter deficiency: Novel mutations and functional studiesSemantic proximity Read ↗

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.Semantic proximity Read ↗

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

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.Semantic proximity Read ↗

Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiencySemantic proximity Read ↗

Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability.Semantic proximity Read ↗

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.Semantic proximity Read ↗

Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8.Semantic proximity Read ↗

[Clinical characterisation of creatine transporter deficiency associated with SLC6A8 gene variants].Semantic proximity Read ↗

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.Semantic proximity Read ↗

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.