40 results on '"Niu, Dau-Ming"'
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2. Development of a gene therapy for cardiac type Fabry disease: A gene editing strategy.
3. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene transfer.
4. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene editing.
5. Early detection of the irreversible cardiac damages in the adults with late onset Fabry disease in a large cohort study via newborn screening.
6. Reevaluate current routine histopathologic examinations for Fabry disease- not sensitive enough to identify early globotriaosylceramide accumulation in cardiomyocytes.
7. Detection of the first manifestation of the very young children with classical Fabry disease: A study based on newborn screening.
8. Revisited later-onset cardiac type Fabry disease: Cardiac damage progresses in silence (experiences from an extremely high prevalent area, Taiwan).
9. When is the best time to start enzyme replacement therapy in patients with cardiac-type Fabry disease? Experience from Taiwan, an area highly prevalent in this cardiac phenotype.
10. Age at first cardiac symptoms in Fabry disease: association with a Chinese hotspot Fabry mutation (IVS4+919G>A), classical mutations, and sex in a Taiwanese population from the Fabry Outcome Survey (FOS).
11. Evaluation of plasma globotriaosylsphingosine (LysoGb3) in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4+919G A)
12. Evaluate the efficacy of small molecule compounds derived from drug repurposing using cardiac type Fabry disease cell model.
13. Fabry in the older patient: Clinical consequences and possibilities for treatment.
14. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency
15. Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy.
16. Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey.
17. Clinical characteristics and demographics in patients 50 years and older in the Fabry Outcome Survey (FOS).
18. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome.
19. Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.
20. Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses.
21. High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.
22. Cardiac improvement after enzyme replacement therapy in Fabry disease
23. Histone deacetylases inhibitors rescue the aberrant alternative splicing of cardiac variant type Fabry disease with IVS4+919G>A mutation
24. Recessive congenital methemoglobinemia caused by a rare mechanism: Maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
25. Homocystinuria in Taiwan: An inordinately high prevalence in an Austronesian aboriginal tribe, Tao
26. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
27. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
28. The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease.
29. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
30. Fabry disease and COVID-19: International expert recommendations for management based on real-world experience.
31. Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease.
32. Development of a new pharmacological chaperone therapeutic strategy for Fabry disease.
33. Asian hotspot Fabry disease mutation, IVS4 + 919G > A, evidence for founder effect and originated in Asia >800 years ago.
34. To develop a fusion protein combined α-galacosidase A and insulin-like factor 2 for treatment of Fabry disease.
35. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan.
36. Accumulation of globotriaosylceramide (GL3) in cardiomyocytes (CM) is progressive with age and inversely correlates with baseline alpha galactosidase A (AGALA) activity in enzyme replacement therapy (ERT)-naïve Fabry patients with IVS4 + 919G >/; A mutation
37. Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysis.
38. A Fabry Outcome Survey (FOS) analysis of cardiac biomarkers and left ventricular hypertrophy in Taiwanese patients with the Chinese hotspot IVS4 + 919G > A mutation or classical Fabry mutations.
39. Pathogenetic studies of 13 novel missense mutations in α-galactosidase A from the newborn screening in Taiwan.
40. Taiwanese patients with the Chinese IVS4 + 919G > A mutation who underwent endomyocardial biopsy: Data from the Fabry Outcome Survey (FOS).
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