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Mei‐Yan Chan

Observed names: Mei Yan Chan, Mei-Yan Chan
ORCID: 0000-0003-2292-9374
Observed ORCID: 0000-0003-2292-9374
OpenAlex ID: A5000523064
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
2023 · Mei-Yan Chan, Julaina Abdul Jalil, et al. · Orphanet Journal of Rare Diseases · 6
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Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series
2023 · Mei-Yan Chan, Andrew Jack Nelson, et al. · Molecular Genetics and Metabolism Reports · 6
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family
2021 · Eva Bagyinszky, Gaik-Siew Ch’ng, et al. · Brain Sciences · 4
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Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
2025 · Yukina Hayashi, Kenta Kajiwara, et al. · Journal of Human Genetics · 2
Case report: Ghosal hematodiaphyseal dysplasia—A rare cause of skeletal dysplasia and cytopenia
2024 · Swee Gaik Ong, Hui Jen Ding, et al. · International Journal of Rheumatic Diseases · 1
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Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene
2023 · Joshua Chin Ern Ooi, Amelia Azman, et al. · Clinical Genetics
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Author response for "Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene"
2023 · Joshua Chin Ern Ooi, Amelia Azman, et al. · Publons reviews and discussion
Works count: 7
Citation count: 19
H-index: 3
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