713 results on '"Niu, Dau-Ming"'
Search Results
102. Development of a new pharmacological chaperone therapeutic strategy for Fabry disease
103. Early detection of the irreversible cardiac damages in the adults with late onset Fabry disease in a large cohort study via newborn screening
104. Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene transfer
105. Asian hotspot Fabry disease mutation, IVS4 + 919G > A, evidence for founder effect and originated in Asia >800 years ago
106. Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses
107. Airway abnormalities in very early treated infantile‐onset Pompe disease: A large‐scale survey by flexible bronchoscopy
108. Polysomnographic Characteristics in Patients With Mucopolysaccharidoses
109. Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
110. Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease
111. Post-traumatic pericarditis mimicking hemopericardium after endomyocardial biopsy in a patient with Fabry disease
112. Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses
113. Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis
114. Domino liver graft from a patient with homozygous familial hypercholesterolemia
115. Six New Mutations of the Thyroglobulin Gene Discovered in Taiwanese Children Presenting with Thyroid Dyshormonogenesis
116. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
117. Turner syndrome phalangeal screening based on a two-stage linear regression concept
118. Labour increases the surface expression of two toll-like receptors in the cord blood monocytes of healthy term newborns
119. Incidence of the Mucopolysaccharidoses in Taiwan, 1984–2004
120. Long-term Follow-up of Taiwanese Chinese Patients Treated Early for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
121. Prader–Willi syndrome in Taiwan
122. Genotype and phenotype in patients with Prader–Willi Syndrome in Taiwan
123. Dysregulation of C/EBPα by mutant Huntingtin causes the urea cycle deficiency in Huntingtonʼs disease
124. Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
125. 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
126. α-Galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?
127. Electrophysiological Changes in Lipaemia Retinalis
128. 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
129. Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite
130. Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene
131. WITHDRAWN: Very rare condition of multiple Gaucheroma: A case report and review of the literature
132. Very rare condition of multiple Gaucheroma: A case report and review of the literature
133. Functional independence of Taiwanese patients with mucopolysaccharidoses
134. Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
135. Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses
136. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan
137. Unveiling novel LRP5pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
138. Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
139. The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses
140. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
141. Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period
142. Functional independence of Taiwanese children with Prader-Willi syndrome
143. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan
144. Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan
145. Functional and biological studies of alpha galactosidase A variants with uncertain significance from newborn screening in Taiwan
146. Identification of lysosomal and extralysosomal globotriaosylceramide (GB3) accumulations in the endomyocardial biopsies before the occurrence of typical pathological changes of the patients with Fabry disease
147. 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
148. Muscle ultrasound
149. Rapid enlargement of a residual craniopharyngioma during short-term growth hormone replacement
150. AB054. Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype and outcomes
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