37 results on '"Niu, Dau-Ming"'
Search Results
2. Safety and long‐term outcomes of early liver transplantation for pediatric methylmalonic acidemia patients
3. Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy
4. The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
5. Airway abnormalities in very early treated infantile‐onset Pompe disease: A large‐scale survey by flexible bronchoscopy
6. Functional independence of Taiwanese patients with mucopolysaccharidoses
7. Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses
8. The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses
9. Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period
10. Functional independence of Taiwanese children with Prader-Willi syndrome
11. Functional independence of Taiwanese children with Down syndrome
12. Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7
13. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis
14. A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment
15. Characterization of pulmonary function impairments in patients with mucopolysaccharidoses-changes with age and treatment
16. Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent
17. Factors Associated with Recurrence Within 2 Years After Curative Surgery for Gastric Adenocarcinoma
18. Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan
19. Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
20. Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
21. Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
22. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late‐onset Fabry mutation (IVS4 + 919G→A)
23. Living donor liver transplantation using a graft from a donor with Dubin–Johnson syndrome
24. Polysomnographic characteristics in patients with mucopolysaccharidoses
25. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
26. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
27. Domino liver graft from a patient with homozygous familial hypercholesterolemia
28. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
29. Turner syndrome phalangeal screening based on a two‐stage linear regression concept
30. Labour increases the surface expression of two toll-like receptors in the cord blood monocytes of healthy term newborns
31. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004
32. Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan
33. Prader–Willi syndrome in Taiwan
34. Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
35. 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).
36. Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.
37. Comparison of the survival difference between AJCC 6th and 7th editions for gastric cancer patients.
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