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

Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2014

Spagnoli Carlotta, Pitt Matthew C, Rahman Shamima, de Sousa Carlos

Abstract excerpt

We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, progressive bulbar palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit. Neurophysiological studies demonstrated a motor neuronopathy involving anterior horn cells and cranial nerve nuclei and...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Membrane Transport Proteins

Share to Mutation

Share to Riboflavin

Source

Identifiers

PMID: 24206674
DOI: 10.1016/j.ejpn.2013.09.006

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

Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.PMID 24206674Read ↗

Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.Semantic proximity Read ↗

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.Semantic proximity Read ↗

Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation.Semantic proximity Read ↗

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.Semantic proximity Read ↗

Autosomal Dominant Brown-Vialetto-Van Laere Syndrome: A New Case and Systematic Review of a Treatable Neurometabolic DisorderSemantic proximity Read ↗

Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.Semantic proximity Read ↗

SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.Semantic proximity Read ↗

Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.Semantic proximity Read ↗

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.Semantic proximity Read ↗

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.Semantic proximity Read ↗

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.Semantic proximity Read ↗

Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndromeSemantic proximity Read ↗

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