368 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. Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α-Galactosidase
4. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
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. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
9. Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
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. Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease
15. 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
16. Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification
17. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review
18. Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis
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. Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study
22. Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
23. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
24. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
25. Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
26. Response to Juang et al.
27. Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease
28. Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
29. Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
30. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan
31. Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia
32. Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma
33. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
34. Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function
35. Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
36. Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome
37. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy
38. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome
39. Functional independence of Taiwanese children with Down syndrome
40. Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)
41. Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
42. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
43. Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia
44. Aortic regurgitation in Marfan syndrome patients who underwent prophylactic surgery: A single-center experience
45. The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
46. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy.
47. Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy
48. Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay
49. Fabry disease and COVID-19: international expert recommendations for management based on real-world experience
50. Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
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