784 results on '"Niu, Dau-Ming"'
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2. Prognostic Implications of Left Ventricular Hypertrophy and Mechanical Function in Fabry Disease: A Longitudinal Cohort Study
3. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
4. Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
5. Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
6. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
7. Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
8. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
9. 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)
10. Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α-Galactosidase
11. Unveiling irreversible cellular injury in cardiac variant Fabry disease patients: Early detection beyond typical pathological alterations in endomyocardial biopsies
12. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
13. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
14. Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease
15. Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
16. Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
17. Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature
18. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients
19. Unveiling novel LRP5pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
20. 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
21. 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
22. Fabry disease: Review and experience during newborn screening
23. Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan
24. Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
25. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
26. 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
27. Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes
28. Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease
29. Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation
30. Audiological and otologic manifestations of glutaric aciduria type I
31. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
32. Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease
33. 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)
34. 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
35. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome
36. Fabry in the older patient: Clinical consequences and possibilities for treatment
37. Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
38. Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
39. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes
40. Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
41. Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
42. Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
43. Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey
44. Development of a gene therapy for cardiac type Fabry disease: A gene editing strategy
45. Evaluate the efficacy of small molecule compounds derived from drug repurposing using cardiac type Fabry disease cell model
46. Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification
47. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review
48. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency
49. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect
50. Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis
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