81 results on '"Niu, Dau-Ming"'
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2. Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey
3. Development of a gene therapy for cardiac type Fabry disease: A gene editing strategy
4. Evaluate the efficacy of small molecule compounds derived from drug repurposing using cardiac type Fabry disease cell model
5. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review
6. Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
7. Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
8. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
9. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene editing
10. Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease
11. Fabry disease and COVID-19: International expert recommendations for management based on real-world experience
12. Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay
13. Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
14. To develop a fusion protein combined α-galacosidase A and insulin-like factor 2 for treatment of Fabry disease
15. The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease
16. Development of a new pharmacological chaperone therapeutic strategy for Fabry disease
17. Early detection of the irreversible cardiac damages in the adults with late onset Fabry disease in a large cohort study via newborn screening
18. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene transfer
19. Asian hotspot Fabry disease mutation, IVS4 + 919G > A, evidence for founder effect and originated in Asia >800 years ago
20. WITHDRAWN: Very rare condition of multiple Gaucheroma: A case report and review of the literature
21. Very rare condition of multiple Gaucheroma: A case report and review of the literature
22. Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
23. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan
24. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients
25. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
26. Fabry disease: Review and experience during newborn screening
27. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan
28. Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan
29. Functional and biological studies of alpha galactosidase A variants with uncertain significance from newborn screening in Taiwan
30. 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
31. Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy
32. Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease
33. Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation
34. 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
35. Reevaluate current routine histopathologic examinations for Fabry disease- not sensitive enough to identify early globotriaosylceramide accumulation in cardiomyocytes
36. Later Onset Fabry Disease, Cardiac Damage Progress in Silence
37. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy
38. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome
39. Fabry in the older patient: Clinical consequences and possibilities for treatment
40. Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
41. Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
42. Clinical characteristics and demographics in patients 50years and older in the Fabry Outcome Survey (FOS)
43. Revisited later-onset cardiac type Fabry disease: Cardiac damage progresses in silence (experiences from an extremely high prevalent area, Taiwan)
44. Detection of the first manifestation of the very young children with classical Fabry disease: A study based on newborn screening
45. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes
46. 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
47. Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysis
48. Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
49. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency
50. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect
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