713 results on '"Niu, Dau-Ming"'
Search Results
152. AB077. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulation in endomyocardial biopsies before the occurrence of typical pathological changes of Fabry disease
153. AB043. Correction of the GLA IVS4+919 G>A mutation with CRISPR/Cas9 deletion strategy in fibroblasts of Fabry disease
154. AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute
155. AB049. Diagnosis and treatment of phenylketonuria in Taiwan- experience from a national newborn screening confirmatory center
156. AB001. Methylmalonic and propionic acidemias: comparative outcomes between liver transplantation versus non-liver transplantation groups
157. AB101. 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
158. AB036. Cardiac features in Taiwanese patients with mucopolysaccharidosis IVA
159. AB029. Rare condition of hepatic Gaucheroma in a type I Gaucher patient with enzyme replacement therapy
160. Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease
161. Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease
162. Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy
163. Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation
164. A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation
165. Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey
166. Accumulation of globotriaosylceramide (GL3) in cardiomyocytes (CM) is progressive with age and inversely correlates with baseline alpha galactosidase A (AGALA) activity in enzyme replacement therapy (ERT)-naïve Fabry patients with IVS4 + 919G>/;A mutation
167. Reevaluate current routine histopathologic examinations for Fabry disease- not sensitive enough to identify early globotriaosylceramide accumulation in cardiomyocytes
168. Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane
169. AB164. Methylmalonic acidemia/propionic acidemia in Taiwan
170. AB084. Cause of death and clinical characteristics of 34 mortality patients with mucopolysaccharidosis II in Taiwan, 1995-2012
171. AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy
172. AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation
173. AB018. Revisited later-onset cardiac type Fabry disease—cardiac damages progressed in silence—experiences from an extremely high prevalent area, Taiwan
174. AB150. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
175. AB165. Extended follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
176. AB017. The extended newborn screening by tandem mass in Taiwan—results from two national newborn screening centers: Taipei Institute of Pathology & Chinese Foundation of Health
177. AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population
178. AB172. High-throughput and cost-effective newborn screening method for female with fabry disease by DNA mass spectrometry in Taiwan
179. AB173. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in a folate deficiency area where has inordinately high homocystinuria prevalence
180. AB066. Pseudohomozygous familial hypercholesterolemia has better outcome than homozygous familial hypercholesterolemia
181. AB067. Glucose tetrasaccharide (Glc4) level in urine sample as a biomarker for Pompe patients
182. Later Onset Fabry Disease, Cardiac Damage Progress in Silence
183. The Fabry disease-causing mutation, GLAIVS4+919G>A, originated in Mainland China more than 800 years ago
184. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis
185. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy
186. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome
187. Fabry in the older patient: Clinical consequences and possibilities for treatment
188. A 15-Year Perspective of the Fabry Outcome Survey
189. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation inPOMGNT1to Autosomal Recessive Retinitis Pigmentosa
190. Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
191. Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
192. Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
193. Clinical characteristics and demographics in patients 50years and older in the Fabry Outcome Survey (FOS)
194. Revisited later-onset cardiac type Fabry disease: Cardiac damage progresses in silence (experiences from an extremely high prevalent area, Taiwan)
195. Detection of the first manifestation of the very young children with classical Fabry disease: A study based on newborn screening
196. A Fabry Outcome Survey (FOS) analysis of cardiac biomarkers and left ventricular hypertrophy in Taiwanese patients with the Chinese hotspot IVS4+919G>A mutation or classical Fabry mutations
197. Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysis
198. Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
199. Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
200. Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease.
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