31 results on '"Niu, Dau-Ming"'
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2. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
3. Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
4. Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
5. Audiological and otologic manifestations of glutaric aciduria type I
6. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
7. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
8. Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease
9. Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
10. Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
11. Response to Juang et al.
12. Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
13. Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
14. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry
15. A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation
16. Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
17. Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
18. Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)
19. Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)
20. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
21. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
22. Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
23. Development of monocyte Toll-like receptor 2 and Toll-like receptor 4 in preterm newborns during the first few months of life
24. Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses
25. Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations
26. Comparison of the Survival Difference Between AJCC 6th and 7th Editions for Gastric Cancer Patients
27. Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability
28. Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome
29. Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature
30. Rapid enlargement of a residual craniopharyngioma during short-term growth hormone replacement
31. Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene
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