474 results on '"Niu, Dau-Ming"'
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2. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
3. Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
4. Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
5. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
6. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
7. Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
8. Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
9. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
10. Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease
11. Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
12. Fabry disease: Review and experience during newborn screening
13. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients
14. Audiological and otologic manifestations of glutaric aciduria type I
15. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
16. Unveiling irreversible cellular injury in cardiac variant Fabry disease patients: Early detection beyond typical pathological alterations in endomyocardial biopsies
17. Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes
18. Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease
19. Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease
20. 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
21. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes
22. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency
23. Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
24. Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
25. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect
26. Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
27. Response to Juang et al.
28. Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease
29. Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
30. Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
31. Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma
32. Recessive congenital methemoglobinemia caused by a rare mechanism: Maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
33. The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots
34. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
35. Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan
36. Functional independence of Taiwanese children with Down syndrome
37. Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study.
38. Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
39. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy
40. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
41. Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia
42. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.
43. Comparison of the Survival Difference Between AJCC 6th and 7th Editions for Gastric Cancer Patients
44. Factors Associated with Recurrence Within 2 Years After Curative Surgery for Gastric Adenocarcinoma
45. Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability
46. Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
47. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
48. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
49. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
50. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis
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