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

NAXE gene mutation-related progressive encephalopathy

22 Oct 2021

Abstract excerpt

RATIONALE: Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is an infantile, lethal neurometabolic disorder caused by a NAD(P)HX epimerase (NAXE) gene mutation. It is characterized by a fluctuating disease course with repeated episodes of improvement and regression. In this report, we present a rare case of NAXE gene mutation-related encephalopathy with unexpected neurological recovery and...

Read the complete abstract on PubMed

Topics

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

Share to Biochemical Acid Research Studies
Share to Cholesterol and Lipid Metabolism
Share to Neurological diseases and metabolism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34678889
DOI: 10.1097/md.0000000000027548

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

NAXE gene mutation-related progressive encephalopathyPMID 34678889Read ↗

Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case reportSemantic proximity Read ↗

[Clinical and genetic features of early-onset progressive encephalopathy associated with NAXE gene mutations].Semantic proximity Read ↗

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.Semantic proximity Read ↗

NAXD Encephalopathy Mimicking Neuroinflammatory Disease.Semantic proximity Read ↗

NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.Semantic proximity Read ↗

Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.Semantic proximity Read ↗

Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.Semantic proximity Read ↗

Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.Semantic proximity Read ↗

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.Semantic proximity Read ↗

Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 MutationSemantic proximity Read ↗

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.Semantic proximity Read ↗

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.Semantic proximity Read ↗

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