Rare disease: Mucopolysaccharidoses
Our hospital pioneered "Holistic medical care for patients with mucopolysaccharidosis" and won the Silver Medal Award in the 2018 Symbol of National Quality (SNQ) Hospital Specialty Medical Care Group. Since 1990, it has implemented comprehensive medical care for mucopolysaccharidoses and has been recognized. The number of consultations and referrals has increased year by year, making it the medical center with the largest number of care and the largest number of evacuations in the country. Patients came from Japan, South Korea, China and other Asian countries, and we are committed to being "the most trusted medical center for disadvantaged groups." Since 1999, our hospital has provided physical examination and diagnosis services for patients with suspected mucopolysaccharidosis and has become the national mucopolysaccharidosis diagnostic center. From 2007 to 2025, more than 4,000 specimens were processed, covering medical institutions at all levels. As of JUne 2026, our hospital has published 98 mucopolysaccharidosis-related papers on PUBMED, ranking first in Asia, and most of them are the results of cross-field, cross-hospital, and cross-international collaborations. The team's outstanding achievements set a national example.
No.1 in the world:
First SCI medical paper in the world: A pilot newborn screening program for Mucopolysaccharidosis Type I in Taiwan: Lin SP, Lin HY, Wang TJ, et al. A Pilot Newborn Screening Program for Mucopolysaccharidosis Type I in Taiwan. Orphanet J Rare Dis. 2013;8:147.
First SCI medical paper in the world: A nationwide newborn screening program for Mucopolysaccharidoses Type I and II: Chuang CK, Lin HY, Wang TJ, et al. Status of newborn screening and follow-up investigations for Mucopolysaccharidoses I and II in Taiwan. Orphanet J Rare Dis. 2018;13:84.
First SCI medical paper in the world: [Earliest and largest in scale] Nationwide screening for Mucopolysaccharidoses Types I, II, IVA, and VI: Chuang CK, Lee CL, Tu RY, et al. Nationwide Newborn screening program for mucopolysaccharidoses in Taiwan and an update of the “gold standard” criteria required to make a confirmatory diagnosis. Diagnostics (Basel), 11, 1583.
No.1 in the world:
The world's earliest and largest newborn screening test for mucopolysaccharidosis types 1, 2, 6, and 4A (pilot study started in 2008, comprehensive newborn screening started in 2015, and more than 850,000 cases have been screened so far) (European, American and Japanese countries: small-scale newborn screening began in 2018, currently less than 100,000 persons have been screened)
The world's largest: Mucopolysaccharidosis newborn screening "gene variation" and "genotype-phenotype correlation" database (Europe, the United States and Japan: None)
No.1 in the world:
First SCI medical paper in the world: A pilot newborn screening program for Mucopolysaccharidosis Type I in Taiwan: Lin SP, Lin HY, Wang TJ, et al. A Pilot Newborn Screening Program for Mucopolysaccharidosis Type I in Taiwan. Orphanet J Rare Dis. 2013;8:147.
First SCI medical paper in the world: A nationwide newborn screening program for Mucopolysaccharidoses Type I and II: Chuang CK, Lin HY, Wang TJ, et al. Status of newborn screening and follow-up investigations for Mucopolysaccharidoses I and II in Taiwan. Orphanet J Rare Dis. 2018;13:84.
First SCI medical paper in the world: [Earliest and largest in scale] Nationwide screening for Mucopolysaccharidoses Types I, II, IVA, and VI: Chuang CK, Lee CL, Tu RY, et al. Nationwide Newborn screening program for mucopolysaccharidoses in Taiwan and an update of the “gold standard” criteria required to make a confirmatory diagnosis. Diagnostics (Basel), 11, 1583.
The overall satisfaction rate of care services for patients with rare diseases is 96.4% in 2025.
The overall satisfaction rate of care services for patients with rare diseases is 96.4% in 2025.
No.1 in the world:
First SCI medical paper in the world: A pilot newborn screening program for Mucopolysaccharidosis Type I in Taiwan: Lin SP, Lin HY, Wang TJ, et al. A Pilot Newborn Screening Program for Mucopolysaccharidosis Type I in Taiwan. Orphanet J Rare Dis. 2013;8:147.
First SCI medical paper in the world: A nationwide newborn screening program for Mucopolysaccharidoses Type I and II: Chuang CK, Lin HY, Wang TJ, et al. Status of newborn screening and follow-up investigations for Mucopolysaccharidoses I and II in Taiwan. Orphanet J Rare Dis. 2018;13:84.
First SCI medical paper in the world: [Earliest and largest in scale] Nationwide screening for Mucopolysaccharidoses Types I, II, IVA, and VI: Chuang CK, Lee CL, Tu RY, et al. Nationwide Newborn screening program for mucopolysaccharidoses in Taiwan and an update of the “gold standard” criteria required to make a confirmatory diagnosis. Diagnostics (Basel), 11, 1583.
No.1 in the world:
First SCI medical paper in the world: A pilot newborn screening program for Mucopolysaccharidosis Type I in Taiwan: Lin SP, Lin HY, Wang TJ, et al. A Pilot Newborn Screening Program for Mucopolysaccharidosis Type I in Taiwan. Orphanet J Rare Dis. 2013;8:147.
First SCI medical paper in the world: A nationwide newborn screening program for Mucopolysaccharidoses Type I and II: Chuang CK, Lin HY, Wang TJ, et al. Status of newborn screening and follow-up investigations for Mucopolysaccharidoses I and II in Taiwan. Orphanet J Rare Dis. 2018;13:84.
First SCI medical paper in the world: [Earliest and largest in scale] Nationwide screening for Mucopolysaccharidoses Types I, II, IVA, and VI: Chuang CK, Lee CL, Tu RY, et al. Nationwide Newborn screening program for mucopolysaccharidoses in Taiwan and an update of the “gold standard” criteria required to make a confirmatory diagnosis. Diagnostics (Basel), 11, 1583.
