789 results on '"Niu, Dau-Ming"'
Search Results
52. Development of a gene therapy for cardiac type Fabry disease: A gene editing strategy
53. Evaluate the efficacy of small molecule compounds derived from drug repurposing using cardiac type Fabry disease cell model
54. Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification
55. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review
56. Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan
57. Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
58. High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry
59. Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses
60. Response to Juang et al.
61. Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
62. Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
63. Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study
64. Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
65. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
66. Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4 + 919G>A)
67. Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease
68. Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma
69. Recessive congenital methemoglobinemia caused by a rare mechanism: Maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
70. Homocystinuria in Taiwan: An inordinately high prevalence in an Austronesian aboriginal tribe, Tao
71. The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots
72. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
73. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan
74. Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia
75. Prevalence of lower urinary tract symptoms in children with early‐treated infantile‐onset Pompe disease: A single‐centre cross‐sectional study
76. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
77. Functional independence of Taiwanese children with Down syndrome
78. Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
79. Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature
80. Safety and long‐term outcomes of early liver transplantation for pediatric methylmalonic acidemia patients
81. Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia
82. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency
83. Clinical Features of Osteogenesis Imperfecta in Taiwan
84. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
85. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy
86. 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
87. Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome
88. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy
89. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome
90. Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy
91. Comparison of the Survival Difference Between AJCC 6th and 7th Editions for Gastric Cancer Patients
92. Factors Associated with Recurrence Within 2 Years After Curative Surgery for Gastric Adenocarcinoma
93. Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability
94. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
95. Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
96. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
97. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
98. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
99. Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay
100. Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
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