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

A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.

Pediatrics - 1 Jan 2008

Papadimitriou Anastasios, Dumitrescu Alexandra Mihaela, Papavasiliou Antigone, Fretzayas Andreas, Nicolaidou Polyxeni, Refetoff Samuel

Abstract excerpt

Monocarboxylate transporter 8 acts as a specific cell membrane transporter for thyroxine and especially triiodothyronine into target cells. It is expressed in brain neurons and in many other tissues. The monocarboxylate transporter 8 gene resides on chromosome Xq13.2. An 11-month-old male infant was referred because of severe hypotonia from early life and global developmental delay. Thyroid-function tests showed...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Monocarboxylic Acid Transporters

Share to Muscle Hypotonia

Share to Myopathies, Structural, Congenital

Share to Risk Assessment

Share to Severity of Illness Index

Share to Thyroid Function Tests

Source

Identifiers

PMID: 18166539
DOI: 10.1542/peds.2007-1247

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.PMID 18166539Read ↗

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.Semantic proximity Read ↗

Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation.Semantic proximity Read ↗

Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations.Semantic proximity Read ↗

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.Semantic proximity Read ↗

X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype.Semantic proximity Read ↗

Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a reviewSemantic proximity Read ↗

Minireview: thyroid hormone transporters: the knowns and the unknowns.Semantic proximity Read ↗

Thyroid hormone transporters.Semantic proximity Read ↗

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.Semantic proximity Read ↗

Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.Semantic proximity Read ↗

A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatmentSemantic proximity Read ↗

Functional Analysis of Monocarboxylate Transporter 8 Mutations Identified in Patients with X-Linked Psychomotor Retardation and Elevated Serum TriiodothyronineSemantic proximity Read ↗

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