27 results on '"Niu, Dau-Ming"'
Search Results
2. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
3. Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
4. Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
5. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
6. Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease
7. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients
8. Audiological and otologic manifestations of glutaric aciduria type I
9. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
10. 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
11. Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
12. Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
13. Response to Juang et al.
14. Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
15. Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
16. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
17. Comparison of the Survival Difference Between AJCC 6th and 7th Editions for Gastric Cancer Patients
18. Factors Associated with Recurrence Within 2 Years After Curative Surgery for Gastric Adenocarcinoma
19. Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability
20. Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
21. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
22. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
23. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
24. 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
25. Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene
26. Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
27. Rapid enlargement of a residual craniopharyngioma during short-term growth hormone replacement
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