A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

被引：0
作者：
Shuan-Pei Lin
Hsiang-Yu Lin
Tuen-Jen Wang
Chia-Ying Chang
Chia-Hui Lin
Sung-Fa Huang
Chia-Chen Tsai
Hsuan-Liang Liu
Joan Keutzer
Chih-Kuang Chuang
机构：
[1] Mackay Memorial Hospital,Division of Genetics and Metabolism, Department of Medical Research
[2] Mackay Memorial Hospital,Department of Pediatrics
[3] Mackay Memorial Hospital,Department of Laboratory Medicine
[4] National Taipei University of Technology,Institute of Biotechnology
[5] Fu-Jen Catholic University,College of Medicine
[6] Mackay Junior College of Medicine,Department of Early Childhood Care and Education
[7] Mackay Medical College,Department of Medicine
[8] Taipei Medical University,Department of Biochemistry, School of Medical Laboratory Science and Biotechnology
[9] Mackay Memorial Hospital,Department of Pediatrics
[10] National Yang-Ming University,Institute of Clinical Medicine
[11] Genzyme Corporation,Scientific and Medical Affairs
来源：
Orphanet Journal of Rare Diseases | / 8卷
关键词：
Mucopolysaccharidosis type I; α-L-iduronidase; Dried blood spots; Newborn screening;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
[41]   Evaluation of newborn hearing screening program [J].
Alves Marinho, Ana Carolina ;
de Souza Pereira, Edirlene Cordeiro ;
Costa Torres, Kleyse Kerlyne ;
Miranda, Andreza Monforte ;
Losno Ledesma, Alleluia Lima .
REVISTA DE SAUDE PUBLICA, 2020, 54
[42]   Sickle Cell Disease Newborn Screening-An Audit of a Twin Island State Pilot Program [J].
Jarvis, Shivon Belle ;
Hadeed, Edda ;
Lee, Ketty ;
Hardy-Dessources, Marie-Dominique ;
Knight-Madden, Jennifer M. ;
Richardson, Claudine .
INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2023, 9 (01)
[43]   Synthesis of the endogenous non-reducing end heparan sulfate disaccharide for newborn screening and diagnosis of Mucopolysaccharidosis type IIIA [J].
Gholap, Sachin Popat ;
Herbst, Zackary ;
Paranji, Rajan K. ;
Gelb, Michael H. .
CARBOHYDRATE RESEARCH, 2025, 555
[44]   Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs [J].
De Jesus, Victor R. ;
Adam, Barbara W. ;
Mandel, Daniel ;
Cuthbert, Carla D. ;
Matern, Dietrich .
MOLECULAR GENETICS AND METABOLISM, 2014, 113 (1-2) :67-75
[45]   Management of aortic stenosis in mucopolysaccharidosis type I [J].
Felice, Tiziana ;
Murphy, Elaine ;
Mullen, Michael J. ;
Elliott, Perry M. .
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2014, 172 (03) :E430-E431
[46]   Enzyme replacement therapy in mucopolysaccharidosis type I [J].
Miebach, E .
ACTA PAEDIATRICA, 2005, 94 :58-60
[47]   Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening [J].
Lee, Chung-Lin ;
Chang, Szu-Wen ;
Fang, Hung-Hsiang ;
Chuang, Chih-Kuang ;
Chiu, Huei-Ching ;
Chang, Ya-Hui ;
Tu, Yuan-Rong ;
Lo, Yun-Ting ;
Wu, Jun-Yi ;
Lin, Hsiang-Yu ;
Lin, Shuan-Pei .
DIAGNOSTICS, 2025, 15 (08)
[48]   Promising outcomes in glutaric aciduria type I patients detected by newborn screening [J].
Chee-Seng Lee ;
Yin-Hsiu Chien ;
Shinn-Forng Peng ;
Pin-Wen Cheng ;
Lih-Maan Chang ;
Ai-Chu Huang ;
Wuh-Liang Hwu ;
Ni-Chung Lee .
Metabolic Brain Disease, 2013, 28 :61-67
[49]   Promising outcomes in glutaric aciduria type I patients detected by newborn screening [J].
Lee, Chee-Seng ;
Chien, Yin-Hsiu ;
Peng, Shinn-Forng ;
Cheng, Pin-Wen ;
Chang, Lih-Maan ;
Huang, Ai-Chu ;
Hwu, Wuh-Liang ;
Lee, Ni-Chung .
METABOLIC BRAIN DISEASE, 2013, 28 (01) :61-67
[50]   A Large-Scale Nationwide Newborn Screening Program for Pompe Disease in Taiwan: Towards Effective Diagnosis and Treatment [J].
Yang, Chia-Feng ;
Liu, Hao-Chuan ;
Hsu, Ting-Rong ;
Tsai, Fang-Chih ;
Chiang, Sheng-Fong ;
Chiang, Chuan-Chi ;
Ho, Hui-Chen ;
Lai, Chih-Jou ;
Yang, Tsui-Feng ;
Chuang, Sung-Yin ;
Lin, Ching-Yuang ;
Niu, Dau-Ming .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (01) :54-61
12345