26 results on '"Niu, Dau-Ming"'
Search Results
2. Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α-Galactosidase
3. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
4. A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect
5. Electrophysiological Changes in Lipaemia Retinalis
6. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
7. Unveiling novel LRP5pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
8. Prognostic implications of left ventricular hypertrophy and mechanical function in Fabry disease: A longitudinal cohort study
9. The Fabry disease-causing mutation, GLAIVS4+919G>A, originated in Mainland China more than 800 years ago
10. Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease
11. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients
12. 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
13. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy
14. Development of monocyte Toll-like receptor 2 and Toll-like receptor 4 in preterm newborns during the first few months of life
15. Epigenetic profiling of the H19differentially methylated region and comprehensive whole genome array‐based analysis in Silver–Russell syndrome
16. High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population
17. Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004
18. Long-term Follow-up of Taiwanese Chinese Patients Treated Early for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
19. Clinical Features of Ehlers-Danlos Syndrome
20. Corneal Lesion as the Initial Manifestation of Tyrosinemia Type II
21. Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene
22. Muscle ultrasound
23. R173W Mutation of Hydroxymethylbilane SynthetaseIs Associated With Acute Intermittent Porphyria Complicated With Rhabdomyolysis
24. A 15-Year Perspective of the Fabry Outcome Survey
25. Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?
26. Rapid enlargement of a residual craniopharyngioma during short-term growth hormone replacement
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