211 results on '"Niu, Dau-Ming"'
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2. Assessing the Evolution and Influence of Medical Open Databases on Biomedical Research and Healthcare Innovation: A 25-Year Perspective with a Focus on Privacy and Privacy-Enhancing Technologies (Preprint)
3. Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α-Galactosidase
4. Unveiling irreversible cellular injury in cardiac variant Fabry disease patients: Early detection beyond typical pathological alterations in endomyocardial biopsies
5. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
6. Cardiomyocyte Globotriaosylceramide Accumulation in Adult Male Patients with Fabry Disease and IVS4 + 919G>A GLA Mutation is Progressive with Age and Correlates with Left Ventricular Hypertrophy and Reduced Left Ventricular Ejection Fraction
7. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
8. Challenging the Conventional Treatment Initiation Paradigm: Early Detection of Irreversible Cellular Damage in Cardiac Biopsies of Fabry Disease Before the Formation of Gb3 Inclusion Bodies
9. Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey
10. Development of a gene therapy for cardiac type Fabry disease: A gene editing strategy
11. Evaluate the efficacy of small molecule compounds derived from drug repurposing using cardiac type Fabry disease cell model
12. Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification
13. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review
14. Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study
15. Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
16. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
17. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
18. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan
19. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
20. Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia
21. Prevalence of lower urinary tract symptoms in children with early‐treated infantile‐onset Pompe disease: A single‐centre cross‐sectional study
22. Safety and long‐term outcomes of early liver transplantation for pediatric methylmalonic acidemia patients
23. Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis
24. 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
25. Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
26. Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome
27. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy
28. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome
29. Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy
30. 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)
31. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
32. Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
33. Aortic regurgitation in Marfan syndrome patients who underwent prophylactic surgery: A single-center experience
34. The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
35. Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
36. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene editing
37. Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease
38. Fabry disease and COVID-19: International expert recommendations for management based on real-world experience
39. Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy
40. Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay
41. Fabry disease and COVID-19: international expert recommendations for management based on real-world experience
42. Audiological and otologic manifestations of glutaric aciduria type I
43. Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
44. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
45. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
46. Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients
47. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019)
48. Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease
49. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019)
50. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
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