Article

Late-onset cblC defect: clinical, biochemical and molecular analysis

2023-05-08

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evaluate long-term outcomes of Chinese patients with late-onset cblC defect. <bold>Methods</bold> A total of 85 patients with late-onset cblC...

Topics

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

Identifiers and source

Literature Corpus work: c49a4040-23e1-54e7-b720-68b9586394f4
DOI: 10.21203/rs.3.rs-2832403/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Late-onset cblC defect: clinical, biochemical and molecular analysisDOI 10.21203/rs.3.rs-2832403/v1Read

Late-onset cblC defect: clinical, biochemical and molecular analysis.Semantic proximity Read

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.Semantic proximity Read

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

Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese casesSemantic proximity Read

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.Semantic proximity Read

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

Easily Misdiagnosed cblC Deficiency in Adolescents: the Clinical and Metabolic StudiesSemantic proximity Read

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

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case seriesSemantic proximity Read

A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.Semantic proximity Read

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn ScreeningSemantic proximity Read

Methylmalonic acidemia: Current status and research prioritiesSemantic proximity Read