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

Creatine transporter deficiency: Novel mutations and functional studies

30 Jun 2016

Abstract excerpt

X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel. These unrelated patients were evaluated for global developmental delays and language apraxia. Borderline microcephaly was noted in one of them. Diagnosis was prompted by brain magnetic resonance imaging and spectroscopy...

Read the complete abstract on PubMed

Topics

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

Share to Diet and metabolism studies
Share to Muscle metabolism and nutrition
Share to Obesity, Physical Activity, Diet

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27408820
DOI: 10.1016/j.ymgmr.2016.06.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Creatine transporter deficiency: Novel mutations and functional studiesPMID 27408820Read ↗

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

X‐linked creatine transporter defect: An overviewSemantic proximity Read ↗

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency SyndromeSemantic proximity Read ↗

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic applicationSemantic proximity Read ↗

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.Semantic proximity Read ↗

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

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

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

X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.Semantic proximity Read ↗

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

High prevalence of SLC6A8 deficiency in X-linked mental retardation.Semantic proximity Read ↗

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