Article

Clinical and electroencephalogram characteristics of methylmalonic acidemia with neurological injury

2023-05-04

Abstract excerpt

<h4>Objective: </h4> The study aims to investigate the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic academia (MMA) with nervous system damage as the primary manifestation. <h4>Methods: </h4> From January 2017 to November 2022, patients with nervous system injury as the main clinical manifestation diagnosed as methylmalonic acidemia by hematuria metabolism or genetic test were...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d1a59fed-1c89-5b4a-8ede-4db07bcda726
DOI: 10.21203/rs.3.rs-2839688/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical and electroencephalogram characteristics of methylmalonic acidemia with neurological injuryDOI 10.21203/rs.3.rs-2839688/v1Read

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations.Semantic proximity Read

Clinical features and treatment of methylmalonic acidemia complicated with Dandy-Walker continuum: a report of 4 cases and review of literatureSemantic proximity Read

Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China.Semantic proximity Read

Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China.Semantic proximity Read

Neurological Presentations in Pediatric Patients with Inborn Errors of Metabolism: A single-center studySemantic proximity Read

Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review.Semantic proximity Read

Neurological Manifestations of Inborn Errors of Metabolism Among Patients With Confrimed Genetic Mutation in a Kenyan Tertiary Referral CentreSemantic proximity Read

Late-onset methylmalonic acidemia with a rare MMACHC c.457C>T mutation: a case report and literature reviewSemantic proximity Read

Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.Semantic proximity Read

Acute Encephalopathy Caused by Inherited Metabolic DiseasesSemantic proximity Read

[Research progress on the prognosis of patients with various types of Methylmalonic acidemia].Semantic proximity Read

[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].Semantic proximity Read