Ru‐Yi Tu

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Chih‐Kuang Chuang, Hsiang‐Yu Lin, Tuan‐Jen Wang et al. · Orphanet Journal of Rare Diseases · 2018 · 76 citations · Full text

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period

Hsiang‐Yu Lin, Chih‐Kuang Chuang, Chung‐Lin Lee et al. · American Journal of Medical Genetics Part A · 2018 · 35 citations

Sanfilippo Syndrome, Mucopolysaccharidosis Iii, Natural History +11

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)

Hsiang‐Yu Lin, Ru‐Yi Tu, Schu‐Rern Chern et al. · International Journal of Molecular Sciences · 2019 · 28 citations · Full text

Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis

Hsiang‐Yu Lin, Yun‐Ting Lo, Tuan‐Jen Wang et al. · Scientific Reports · 2019 · 25 citations · Full text

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis

Chih‐Kuang Chuang, Chung‐Lin Lee, Ru‐Yi Tu et al. · Diagnostics · 2021 · 22 citations · Full text

Neonatology, Diagnosis, Pathology +18