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Asymptomatic ASS1 carriers with high blood citrulline levels.
Chen HA, Hsu RH, Chang KL, Huang YC, Chiang YC, Lee NC, Hwu WL, Chiu PC, Chien YH. Chen HA, et al. Mol Genet Genomic Med. 2022 Sep;10(9):e2007. doi: 10.1002/mgg3.2007. Epub 2022 Jun 21. Mol Genet Genomic Med. 2022. PMID: 35726796 Free PMC article.
Occurrence of sotos syndrome and coffin-siris syndrome in a family.
Chen HA, Chen NQ, Hsu RH, Hwu WL. Chen HA, et al. Among authors: chen nq. Pediatr Neonatol. 2023 Mar;64(2):227-228. doi: 10.1016/j.pedneo.2022.10.005. Epub 2022 Dec 14. Pediatr Neonatol. 2023. PMID: 36564311 Free article. No abstract available.
Aromatic l-amino acid decarboxylase deficiency in Taiwan.
Hwu WL, Hsu RH, Li MH, Lee HM, Chen HA, Lee NC, Chien YH. Hwu WL, et al. Among authors: chen ha. JIMD Rep. 2023 Aug 2;64(5):387-392. doi: 10.1002/jmd2.12387. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701332 Free PMC article.
267 results