33 results on '"Niu, Dau-Ming"'
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2. Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
3. Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease
4. Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease
5. Functional independence of Taiwanese children with Down syndrome
6. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes
7. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis
8. Hepatomegaly and hyperammonemia in a girl with Silver–Russell syndrome caused by maternal uniparental isodisomy of chromosome 7
9. Characterization of Pulmonary Function Impairments in Patients With Mucopolysaccharidoses—Changes With Age and Treatment
10. A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment
11. Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent
12. Living donor liver transplantation using a graft from a donor with Dubin–Johnson syndrome
13. Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell–Silver Syndrome in Taiwan
14. Polysomnographic Characteristics in Patients With Mucopolysaccharidoses
15. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
16. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
17. Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
18. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
19. Domino liver graft from a patient with homozygous familial hypercholesterolemia
20. Six New Mutations of the Thyroglobulin Gene Discovered in Taiwanese Children Presenting with Thyroid Dyshormonogenesis
21. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
22. Turner syndrome phalangeal screening based on a two-stage linear regression concept
23. Labour increases the surface expression of two toll-like receptors in the cord blood monocytes of healthy term newborns
24. Incidence of the Mucopolysaccharidoses in Taiwan, 1984–2004
25. Long-term Follow-up of Taiwanese Chinese Patients Treated Early for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
26. Prader–Willi syndrome in Taiwan
27. Genotype and phenotype in patients with Prader–Willi Syndrome in Taiwan
28. Dysregulation of C/EBPα by mutant Huntingtin causes the urea cycle deficiency in Huntingtonʼs disease
29. Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
30. 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
31. α-Galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?
32. High Prevalence of a Novel Mutation (2268 insT) of the Thyroid Peroxidase Gene in Taiwanese Patients with Total Iodide Organification Defect, and Evidence for a Founder Effect
33. Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite
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