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

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

Orphanet journal of rare diseases - 2 Sept 2022

Chen Zhehui, Dong Hui, Liu Yupeng, He Ruxuan, Song Jinqing, Jin Ying, Li Mengqiu, Liu Yi, Liu Xueqin, Yan Hui, Qi Jianguang, Wang Fang, Xiao Huijie, Zheng Hong, Kang Lulu, Li Dongxiao, Zhang Yao, Yang Yanling

Abstract excerpt

BACKGROUND: cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose of this study is to investigate the clinical features of patients with late-onset cblC deficiency and explore diagnosis and management strategies around puberty. RESULTS: This study included 56 patients (35 males and 21...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Betaine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carnitine

Share to Homocystinuria

Share to Paraplegia

Share to Puberty

Share to Vitamin B 12

Share to Vitamin B 12 Deficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 36056359
DOI: 10.1186/s13023-022-02471-x
PMCID: PMC9438293

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.PMID 36056359Read ↗

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

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

Late-onset cblC defect: clinical, biochemical and molecular analysisSemantic proximity Read ↗

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

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialistsSemantic proximity Read ↗

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

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

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

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

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.Semantic proximity Read ↗

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