検索結果 - Niu, Dau‐Ming

AB001. Methylmalonic and propionic acidemias: comparative outcomes between liver transplantation versus non-liver transplantation groups 著者: Chu, Tzu-Hung, Niu, Dau-Ming

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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 著者: Niu, Dau-Ming, Chiang, Chuan-Chi, Ho, Hui-Chen

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AB165. Extended follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency 著者: Chu, Tzu-Hung, Yang, Chia-Feng, Niu, Dau-Ming

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Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia 著者: Huang, Chin-Chou, Niu, Dau-Ming, Charng, Min-Ji

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Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability 著者: Jap, Tjin-Shing, Chiu, Chih-Yang, Niu, Dau-Ming, Levine, Michael A.

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AB066. Pseudohomozygous familial hypercholesterolemia has better outcome than homozygous familial hypercholesterolemia 著者: Yen, Chun-Yu, Chu, Tzu-Hung, Yang, Chia-Feng, Niu, Dau-Ming

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Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature 著者: Chen, Wei-Yu, Niu, Dau-Ming, Chen, Li-Zhen, Yang, Chia-Feng

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Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis 著者: Lee, Chung-Lin, Lin, Shuan-Pei, Niu, Dau-Ming, Lin, Hsiang-Yu

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AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy 著者: Chen, Ya-Chi, Hsiel, Shu-Chen, Pai, Ju-Shan, Chu, Tzu-Hung, Niu, Dau-Ming

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AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population 著者: Pai, Ju-Shan, Chen, Ya-Chi, Hsie, Shu-Chen, Yang, Chia-Feng, Niu, Dau-Ming

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AB172. High-throughput and cost-effective newborn screening method for female with fabry disease by DNA mass spectrometry in Taiwan 著者: Hsieh, Yu-Ping, Gao, He-Jin, Huang, Chun-Kai, Ho, Hui-Chen, Niu, Dau-Ming

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Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses 著者: Lin, Hsiang-Yu, Shih, Shou-Chuan, Chuang, Chih-Kuang, Chen, Ming-Ren, Niu, Dau-Ming, Lin, Shuan-Pei

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AB173. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in a folate deficiency area where has inord... 著者: Lin, Yu-Ting, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsu, Ting-Rong, Niu, Dau-Ming

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AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation 著者: Lu, Yung-Hsiu, Li, Cheng-Fang, Huang, Chun-Kai, Lin, Yu-Ting, Hsu, Ting-Rong, Niu, Dau-Ming

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AB150. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome 著者: Hsieh, Shu-Chen, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsieh, Yu-Ping, Niu, Dau-Ming

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AB018. Revisited later-onset cardiac type Fabry disease—cardiac damages progressed in silence—experiences from an extremely high prevalent area, Taiwan 著者: Niu, Dau-Ming, Hsu, Ting-Rong, Yang, Chia-Feng, Chu, Tzu-Hung, Chiang, Chuan-Chi, Ho, Hui-Chen

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AB067. Glucose tetrasaccharide (Glc4) level in urine sample as a biomarker for Pompe patients 著者: Huang, Chun-Kai, Liao, Hsuan-Chieh, Hsieh, Yu-Ping, Chen, Ya-Chi, Yang, Chia-Feng, Niu, Dau-Ming

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Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease 著者: Chang, Wen-Hsin, Niu, Dau-Ming, Lu, Chi-Yu, Lin, Shyr-Yi, Liu, Ta-Chih, Chang, Jan-Gowth

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AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute 著者: Yang, Chia-Feng, Chu, Tzu-Hung, Huang, Ling-Yi, Liao, Hsuan-Chieh, Soong, Wen-Jue, Niu, Dau-Ming

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AB029. Rare condition of hepatic Gaucheroma in a type I Gaucher patient with enzyme replacement therapy 著者: Tseng, Szu Yin, Yang, Chia Feng, Hung, Chu Tzu, Chiang, Chuan-Chi, Ho, Hui-Chen, Niu, Dau-Ming

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