46 results on '"Niu, Dau-Ming"'
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2. Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan
3. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome
4. Fabry in the older patient: Clinical consequences and possibilities for treatment
5. Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
6. Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey
7. Development of a gene therapy for cardiac type Fabry disease: A gene editing strategy
8. Evaluate the efficacy of small molecule compounds derived from drug repurposing using cardiac type Fabry disease cell model
9. High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry
10. Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses
11. Homocystinuria in Taiwan: An inordinately high prevalence in an Austronesian aboriginal tribe, Tao
12. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency
13. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
14. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene editing
15. Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease
16. Fabry disease and COVID-19: International expert recommendations for management based on real-world experience
17. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
18. To develop a fusion protein combined α-galacosidase A and insulin-like factor 2 for treatment of Fabry disease
19. The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease
20. Development of a new pharmacological chaperone therapeutic strategy for Fabry disease
21. Early detection of the irreversible cardiac damages in the adults with late onset Fabry disease in a large cohort study via newborn screening
22. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene transfer
23. Asian hotspot Fabry disease mutation, IVS4 + 919G > A, evidence for founder effect and originated in Asia >800 years ago
24. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan
25. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan
26. Functional and biological studies of alpha galactosidase A variants with uncertain significance from newborn screening in Taiwan
27. Identification of lysosomal and extralysosomal globotriaosylceramide (GB3) accumulations in the endomyocardial biopsies before the occurrence of typical pathological changes of the patients with Fabry disease
28. 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
29. Reevaluate current routine histopathologic examinations for Fabry disease- not sensitive enough to identify early globotriaosylceramide accumulation in cardiomyocytes
30. Clinical characteristics and demographics in patients 50years and older in the Fabry Outcome Survey (FOS)
31. Revisited later-onset cardiac type Fabry disease: Cardiac damage progresses in silence (experiences from an extremely high prevalent area, Taiwan)
32. Detection of the first manifestation of the very young children with classical Fabry disease: A study based on newborn screening
33. 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
34. Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysis
35. 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
36. Taiwanese patients with the Chinese IVS4+919G>A mutation who underwent endomyocardial biopsy: Data from the Fabry Outcome Survey (FOS)
37. Pathogenetic studies of 13 novel missense mutations in α-galactosidase A from the newborn screening in Taiwan
38. 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
39. 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)
40. 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
41. Clinical characteristics and demographics in patients 50 years and older in the Fabry Outcome Survey (FOS)
42. Cardiac improvement after enzyme replacement therapy in Fabry disease
43. Evaluation of plasma globotriaosylsphingosine (LysoGb3) in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4+919G A)
44. Histone deacetylases inhibitors rescue the aberrant alternative splicing of cardiac variant type Fabry disease with IVS4+919G>A mutation
45. Taiwanese patients with the Chinese IVS4 + 919G > A mutation who underwent endomyocardial biopsy: Data from the Fabry Outcome Survey (FOS)
46. 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)
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