713 results on '"Niu, Dau-Ming"'
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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. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
16. Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease
17. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
18. 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
19. Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
20. Fabry disease: Review and experience during newborn screening
21. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients
22. Audiological and otologic manifestations of glutaric aciduria type I
23. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
24. Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes
25. Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease
26. Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease
27. Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)
28. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry
29. Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey
30. Development of a gene therapy for cardiac type Fabry disease: A gene editing strategy
31. Evaluate the efficacy of small molecule compounds derived from drug repurposing using cardiac type Fabry disease cell model
32. Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification
33. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review
34. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes
35. Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis
36. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency
37. Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
38. Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
39. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect
40. Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study
41. Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
42. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
43. Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients
44. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
45. Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
46. Response to Juang et al.
47. Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease
48. Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
49. Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
50. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan
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