43 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. Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
5. Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
6. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
7. 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)
8. Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α-Galactosidase
9. Unveiling irreversible cellular injury in cardiac variant Fabry disease patients: Early detection beyond typical pathological alterations in endomyocardial biopsies
10. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
11. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
12. 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
13. Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
14. Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
15. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
16. 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
17. Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
18. Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey
19. Development of a gene therapy for cardiac type Fabry disease: A gene editing strategy
20. Evaluate the efficacy of small molecule compounds derived from drug repurposing using cardiac type Fabry disease cell model
21. Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification
22. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review
23. Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis
24. Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study
25. Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
26. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
27. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
28. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan
29. Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia
30. Prevalence of lower urinary tract symptoms in children with early‐treated infantile‐onset Pompe disease: A single‐centre cross‐sectional study
31. Safety and long‐term outcomes of early liver transplantation for pediatric methylmalonic acidemia patients
32. 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
33. Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
34. Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome
35. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy
36. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome
37. Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy
38. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
39. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy.
40. Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy.
41. Unveiling novel LRP5pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
42. 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.
43. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy.
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