Article

Ocular manifestations of early-onset combined methylmalonic acidemia and mutations in MMCHC gene

2022-03-31

Abstract excerpt

<h4>Purpose: </h4> Combined MMA is related with retinopathy and optic neuropathy. We aimed to find the relationship of genotypes, the levels of metabolites and ocular damages in combined MMA. <h4>Methods: </h4> We retrospectively analyzed the ocular manifestations, gene tests and levels of organic acid metabolism in seven patients with early-onset combined MMA. <h4>Results: </h4> Seven patients aged 2 to 7 years o...

Topics

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

Identifiers and source

Literature Corpus work: cb6434f2-8c50-5ed2-ba79-e4e26e147d33
DOI: 10.21203/rs.3.rs-1491517/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Ocular manifestations of early-onset combined methylmalonic acidemia and mutations in MMCHC geneDOI 10.21203/rs.3.rs-1491517/v1Read

Methylmalonic acidemia: Current status and research prioritiesSemantic 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

Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.Semantic proximity Read

Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.Semantic proximity Read

Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.Semantic proximity Read

[Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China].Semantic proximity Read

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

Investigation and Analysis of Blood Biochemical Indexes and Molecular Biology of Methylmalonic Acidemia.Semantic proximity Read

[Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type].Semantic proximity Read

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.Semantic proximity Read

[Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria].Semantic proximity Read

[Analysis of the regional distribution differences of common variations of the MMACHC gene in cblC methylmalonic acidemia patients].Semantic proximity Read