Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
2020 · Orphanet Journal of Rare Diseases · 50 citations
https://doi.org/10.1186/s13023-020-01485-7
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Zhehui Chen
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Zhehui Chen is an academic researcher from Google (United States). The author has contributed to research in topics: Metabolism and Genetic Disorders & Mitochondrial Function and Pathology & Folate and B Vitamins Research. The author has an h-index of 12, co-authored 46 publications.
ORCID: 0000-0002-6139-5347Papers by this author
worksAnalysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital
2022 · Orphanet Journal of Rare Diseases · 17 citations
https://doi.org/10.1186/s13023-022-02271-3
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
2022 · Orphanet Journal of Rare Diseases · 15 citations
https://doi.org/10.1186/s13023-022-02471-x
Association and mediation between educational attainment and respiratory diseases: a Mendelian randomization study
2024 · Respiratory Research · 15 citations
https://doi.org/10.1186/s12931-024-02722-4
Comparison of hyperdry amniotic membrane transplantation and conjunctival autografting for primary pterygium
2018 · BMC Ophthalmology · 12 citations
https://doi.org/10.1186/s12886-018-0784-4
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
2022 · Journal of Human Genetics · 7 citations
https://doi.org/10.1038/s10038-022-01102-4
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