Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.

doi:10.1038/s41390-026-04834-7

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

Community

Back to search

Article

Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.

Pediatric research - 1 Jul 2026

Wasim Muhammad, Javed Iram, Iqbal Afia, Mustafa Nadia, Khan Haq Nawaz, Sultan Tipu, Wang Yajun, Ma Guoda

Abstract excerpt

BACKGROUND: MMA and CBS deficiency are rare autosomal recessive metabolic disorders caused by defects in cobalamin metabolism and cystathionine-beta-synthase activity, respectively. Advanced molecular genetic techniques, have become essential for diagnosing these conditions. This study aimed to analyze the genetic variations in three MMA and four CBS deficiency cases using WES and correlate the findings with...

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 Carrier Proteins
Share to Cystathionine beta-Synthase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Homocystinuria

Share to Oxidoreductases

Share to Vitamin B 12

Share to Vitamin B 12 Deficiency

Source

Open in PubMed

Identifiers

PMID: 41776364
DOI: 10.1038/s41390-026-04834-7

Genes

CBS
IMPACT
MMACHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.