713 results on '"Niu, Dau-Ming"'
Search Results
52. Prevalence of lower urinary tract symptoms in children with early‐treated infantile‐onset Pompe disease: A single‐centre cross‐sectional study
53. Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma
54. Recessive congenital methemoglobinemia caused by a rare mechanism: Maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
55. The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots
56. Safety and long‐term outcomes of early liver transplantation for pediatric methylmalonic acidemia patients
57. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
58. Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan
59. Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function
60. Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
61. Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome
62. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy
63. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome
64. Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy
65. Functional independence of Taiwanese children with Down syndrome
66. Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
67. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy
68. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
69. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
70. Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia
71. Aortic regurgitation in Marfan syndrome patients who underwent prophylactic surgery: A single-center experience
72. The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
73. Comparison of the Survival Difference Between AJCC 6th and 7th Editions for Gastric Cancer Patients
74. Factors Associated with Recurrence Within 2 Years After Curative Surgery for Gastric Adenocarcinoma
75. Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability
76. Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
77. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
78. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
79. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
80. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis
81. Hepatomegaly and hyperammonemia in a girl with Silver–Russell syndrome caused by maternal uniparental isodisomy of chromosome 7
82. Characterization of Pulmonary Function Impairments in Patients With Mucopolysaccharidoses—Changes With Age and Treatment
83. A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment
84. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy.
85. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene editing
86. Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease
87. Fabry disease and COVID-19: International expert recommendations for management based on real-world experience
88. Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature
89. Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy
90. Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay
91. Fabry disease and COVID-19: international expert recommendations for management based on real-world experience
92. Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
93. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
94. Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent
95. Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy.
96. Corneal Lesion as the Initial Manifestation of Tyrosinemia Type II
97. Living donor liver transplantation using a graft from a donor with Dubin–Johnson syndrome
98. Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell–Silver Syndrome in Taiwan
99. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019)
100. To develop a fusion protein combined α-galacosidase A and insulin-like factor 2 for treatment of Fabry disease
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