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28 results

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Page 1
Congenital generalized lipodystrophy in Taiwan.
Hsu RH, Lin WD, Chao MC, Hsiao HP, Wong SL, Chiu PC, Chu SY, Ke YY, Lau BH, Chien YH, Hwu WL, Tsai FJ, Wang CH, Lee NC. Hsu RH, et al. J Formos Med Assoc. 2019 Jan;118(1 Pt 1):142-147. doi: 10.1016/j.jfma.2018.02.003. Epub 2018 Mar 1. J Formos Med Assoc. 2019. PMID: 29478747 Free 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: hsu rh. 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.
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. Among authors: hsu rh. 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.
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: hsu rh. 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.
28 results