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

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

15 Feb 2022

Abstract excerpt

Objective: The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China. The present study aimed to investigate the long-term clinical benefits of screening individual. Methods: A national, retrospective multi-center study of infants with confirmed cblC defect...

Read the complete abstract on PubMed

Topics

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

Share to Diet and metabolism studies
Share to Metabolism and Genetic Disorders
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35242167
DOI: 10.3389/fgene.2022.805599

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

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn ScreeningPMID 35242167Read ↗

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

Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.Semantic proximity Read ↗

The follow-up of Chinese patients in mut-type methylmalonic acidemia identified through expanded newborn screeningSemantic proximity Read ↗

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

Methylmalonic acidemia: Current status and research prioritiesSemantic proximity Read ↗

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

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

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

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese PopulationSemantic 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 ↗

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

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