65 results on '"Niu, Dau-Ming"'
Search Results
2. Prognostic Implications of Left Ventricular Hypertrophy and Mechanical Function in Fabry Disease: A Longitudinal Cohort Study
3. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
4. Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature
5. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients
6. 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
7. Fabry disease: Review and experience during newborn screening
8. Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan
9. Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
10. Unveiling irreversible cellular injury in cardiac variant Fabry disease patients: Early detection beyond typical pathological alterations in endomyocardial biopsies
11. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome
12. Fabry in the older patient: Clinical consequences and possibilities for treatment
13. Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
14. Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
15. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes
16. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect
17. Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey
18. Evaluate the efficacy of small molecule compounds derived from drug repurposing using cardiac type Fabry disease cell model
19. Development of a gene therapy for cardiac type Fabry disease: A gene editing strategy
20. High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry
21. Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses
22. Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
23. Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma
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. Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
27. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency
28. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
29. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy
30. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
31. Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay
32. Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
33. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
34. WITHDRAWN: Very rare condition of multiple Gaucheroma: A case report and review of the literature
35. Very rare condition of multiple Gaucheroma: A case report and review of the literature
36. Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy
37. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene editing
38. Fabry disease and COVID-19: International expert recommendations for management based on real-world experience
39. Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease
40. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene transfer
41. Early detection of the irreversible cardiac damages in the adults with late onset Fabry disease in a large cohort study via newborn screening
42. The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease
43. Asian hotspot Fabry disease mutation, IVS4 + 919G > A, evidence for founder effect and originated in Asia >800 years ago
44. Development of a new pharmacological chaperone therapeutic strategy for Fabry disease
45. To develop a fusion protein combined α-galacosidase A and insulin-like factor 2 for treatment of Fabry disease
46. Response to Juang et al.
47. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan
48. 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
49. Functional and biological studies of alpha galactosidase A variants with uncertain significance from newborn screening in Taiwan
50. Reevaluate current routine histopathologic examinations for Fabry disease- not sensitive enough to identify early globotriaosylceramide accumulation in cardiomyocytes
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