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