Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran
Our findings expand the global spectrum of genotypes in MMA. While WES, combined with metabolomics and biochemical analysis, offers valuable insights for accurate diagnosis and subtyping of MMA, it is most beneficial in complex cases where clinical findings are unclear.
Authors
- Hossein Moravej
- Zahra Beyzaei (ORCID: https://orcid.org/0000-0002-8987-2555)
- Mohammad Hadi Imanieh (ORCID: https://orcid.org/0000-0003-4610-0413)
- Soroor Inaloo (ORCID: https://orcid.org/0000-0002-5621-3473)
- Bita Geramizadeh (ORCID: https://orcid.org/0000-0003-1009-0049)
Institutions
- Shiraz University of Medical Sciences (IR)
- Khalili Hospital (IR)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2024-12-04
- DOI
- https://doi.org/10.1186/s12887-024-05291-z
- Citations
- 4
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.52
Funders
- Shiraz University of Medical Sciences
- Shiraz University
- Shiraz Transplant Research Center, Shiraz University of Medical Sciences