Posters

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P1 Analysis of children with congenital hypothyroidism in neonatal disease screening for 20 years
Hui Zou

P2. Factors Affecting Neonatal Hyperthyrotropenemia-a prospective study
Haseena Sait, Ritika Garg, Ankur Jindal, Thelma BK, Seema Kapoor

P3. Cascade screening of first degree relatives (FDRs) of children with congenital hypothyroidism (CH) : report from a tertiary care facility in North India
Puja Chaudhary, Haseena Sait, Aashima Dabbas, Gaurav Pradhan, Thelma BK, Sangeeta Yadav, Seema Kapoor

P4. Closer Surveillance for both Iodine deficiency and excess affecting newborn screening results  :the changing paradigm
Deepashree KR, Haseena Sait*, Sangeeta Yadav, Monica Juneja, Sangeeta Gupta, Ankur Jindal & Seema Kapoor

P5. Critical Cutoff for Newborns to Improve Reporting for Thyroid Stimulating Hormone
Hafsa Majid, Aysha Habib, Sibtain Ahmed, Khadija Humayun, Imran Siddiqui, Salman Kirmani, Lena Jafri

P6. Evaluation of the performance of genetic screening processor and setting the cut-off values in screening for congenital hypothyroidism in newborn
Liwen Wang, Min Ni, Dehua Zhao, Suna Liu

P7. Screening for congenital hypothyroidism in Qingdao over the period 1997–2012: Incidence trends and clinical types
Liqin ZhangQingdao

P8. Analysis and assessment of Cut-off Value for Congenital Hypothyroidism on Newborn screening in Zhejiang Province
Yanhua Xu, Rulai Yang, Jing Zheng, Dingwan Chen

P9. Bridging the gap in Pediatric Reference Intervals (RIs)- Data mining of Laboratory Information System for Establishment of RIsE of Neonatal Thyroid Stimulating Hormone at a Tertiary Care Hospital in Pakistan
Sibtain Ahmed, Lena Jafri, Aysha Habib Khan, Hafsa Majid, Farooq Ghani, Imran Siddiqui

P10. Discussion on early predictors of different classification of congenital hypothyroidism
Yaqiong Yan

P11. Key performance indicators of the screening for congenital hypothyroidism Sri Lanka in terms of coverage, effectiveness of detection and managing cases
Manjula Hettiarachchi, Sujeewa Amarasena

P12. Analysis of positive recall results of screening for congenital hypothyroidism in newborns in Guangxi from 2014 to 2018
Wei Li, Xin Fan, Caijuan Lin, Yuqi Xu, Xiaotao Huang

P13. The role of genetic factors in the pathogenesis of congenital hypothyroidism in Guangxi China
Xin Fan, Shaoke Chen

P14. Mutation Spectrum in TPO Gene of Bangladeshi Patients with Thyroid Dyshormonogenesis
Mohammad Mizanul Hasan, Mst. Noorjahan Begum, Tasnia Kawsar Konika, Sadia Sultana, Syed Saleheen Qadri, Firdausi Qadri, Sharif Akhteruzzaman, Kaiissar Mannoor

P15. Clinical Outcome of Regulation of TSH And FT4 In Children With Congenital Hypothyroidism Seen In The Newborn Screening Continuity Clinic In The Southern Philippines Medical Center
Krystle Marie Niñora, Conchita Abarquez

P16. Detecting Missed Cases of Congenital Hypothyroidism During Repeat Newborn Screening of Preterm Babies
Conchita Abarquez

P17. DUOX2 Hotspots Variants and Outcomes of Patients with Congenital Hypothyroidism Suspected Thyroid Dyshormonogenesis
Yonglan Huang, Minyi Tan, Xiang Jiang, Chengfang Tang, Yi Feng, Sichi Liu, Pei Li, Jilian Liu, Li Liu

P18. Growth analysis in 40 Japanese patients with 21OHD- influence of glucocorticoid dosage, genotype and phenotype on growth outcome
Satoshi Okada, Reiko Kagawa, Sonoko Sakata, Keiichi Hara, Go Tajima

P19. Determination of a steroid profile in dried blood spots by liquid chromatography-tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia
Xia Zhan, Jun Ye, Wenjuan Qiu, Lianshu Han, Huiwen Zhang, Lili Liang, Xuefan Gu

P20. Mutation spectrum of CYP21A2 gene in Congenital adrenal hyperplasia patients in Guangxi China
Jinsi Luo, Mengting Li, Sheng Yi, Xin Fan

P21. Establish the cut-off value of neonatal screening for congenital adrenal hyperplasia of premature newborns in Si Chuan
Qi Hu

P22. Analysis of Newborn Screening for Congenital Adrenal Hyperplasia on Genetic Screening Processor(GSPTM)in Zhejiang Province, China
Kexin Fang, Dingwen Wu, Jianbin Yang, Rulai Yang

P23. The Second-tier Newborns Screening for Congenital Adrenal Hyperplasia by Liquid Chromatography Tandem Mass Spectrometry
Guoxing Geng, Xin Fan, Caijuan Lin, Jingsi Luo, Xiaotao Huang, Shaoke Chen

P24. Newborn screening for congenital adrenal hyperplasia in Beijing
Nan Yang, Jinqi Zhao, Haihe Yang, Yuanyuan Kong

P25. The adjustment of cut-off for congenital adrenal hyperplasia  neonatal screening by GSP according to gestational age and age at sample collection
Xiang Jiang, Yonglan Huang, Yi Feng, Fang Tang

P26. The clinical and laboratory study of the first case of PCD deficiency in China and literature review
Fang Sun, Shunan Wang, Xiaowen Li, Zhixin Zhang, Ming Shen

P27. Mutation Analysis of Phenylalanine Hydroxylase Deficiency Gene in Shanxi
Qin Dong, Jianping Yang, Wenjuan Mu, Ling Zhu, Yaqiong Yan, Jinjie Xue, Weipeng Wang

P28. Studies on mutations of gene in children with phenylalanine hydroxylase deficiency in Qingdao
Liqin Zhang, Wei Du, Weibing Lu

P29. A novel homozygous splicing mutation of QDPR in a case of dihydropteridine reductase deficiency
Bicheng Yang, Feng Wang, Qing Lu, Xiaolan Xu

P30. Logistic Regression analysis improve Diagnostic Accuracy in secondary MS/MS newborn screening for PKU
Zhixing Zhu, Hui Lu, Guoli Tian, Jianlei Gu, Yanmin Wang, Xiaoshu Cai, Jing Guo

P31. Mild 6-pyruvoyl-tetrahydropterin synthase(PTS) deficiency with c.286G>A and c.84-291A>G mutation: a case report
Zhijun Ma, Nan Yang, Lifei Gong, Yuanyuan Kong

P32. Ten-year retrospective analysis of screening for G6PD deficiency in neonates in Hainan Province
Jie Wang, Zhendong Zhao

P33. Chinese newborn screening for G6PD deficiency, from enzyme activity to gene
Lin Zou, Chaowen Yu, Zhidai Liu, Qingge Li, Zhiguo Wang

P34. Screening of glucose-6-phosphate dehydrogenase deficiency in Zhejiang Province
Hiaxia Miao, Ting Zhang, Kexin Fang, Xiaocha Xu, Dingwen Wu, Qingbo Li, Yezhen Shi, Ke Xu, Rulai Yang

P35. Exploration of the newborn screening and gene mutation of glucose-6-phosphate dehydrogenase in Sichuan
Jingyao Zhou

P36. Characterization of Mutations through Whole Gene Sequencing of the Glucose-6-Phosphate Dehydrogenase Gene among Filipino Children with G6PD Deficiency
Eva Maria Cutiongco-de La Paz, Carmencita Padilla, Nick Rainier Santos, Melissa Mae Baluyot, Melissa Mae Baluyot

P37. External Quality Assurance Program of G6PD Confirmatory Centers in the Philippines
Maria Truda Dizon-Escoreal, Anna Victoria Sombong, Charity Jomento, Karen Asuncion Panol

P38. A Rapid Multiplexed Primer Extension Method Using Dried Blood Spot Samples as The Second-tier Assay for Newborn Screening of Glucose-6-phosphate Dehydrogenase Deficiency
Tze-Tze Liu, Hsiao-Jan Chen, Ying-Chen Chang, Yu-Ning Liu, Shu-Min Kao, Mei-Ying Liu, Ying-Yen Weng, Kwang-Jen Hsiao, Yen-Hui Chiu

P39. Newborn screening for G6PD deficiency: Pilot study to expand the screening panel in Sri Lanka
Manjula Hettiarachchi, Sujeewa Amarasena

P40. Analysis of G6PD gene mutation in newborns in Hainan Province
Zhendong Zhao, Jie Wang, Xiulian Liu, Cidan Huang

P41 Screening and gene mutation analysis of neonatal methylmalonate acidemia in Henan
Dehua Zhao, Xiaole Li

P42. Clinical, biochemical and genetic pictures of propionic acidemia patients detected by neonatal screening in Japan
Go Tajima, Yasuhiro Maeda, Toshiyuki Fukao

P43. Genotype analysis of 566 patients with cblC type methylmalonic acidemia (withdrawn)
Lianshu Han, Huishu E

P44. The phenotypes and genotypes of 851 Chinese patients with combined methylmalonic aciduria and homocystinuria
Lulu Kang, Yupeng Liu, Yi Liu, Ruxuan He, Ying Jin, Mengqiu Li, Jinqing Song, Yao Zhang, Hui Dong, Xueqin Liu, Hui Yan, Chunyu Zhang, Huijie Xiao, Haixia Li, Hongyun Yang, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Huifeng Zhang, Yanan Zhang, Xin Deng, Xiaowen Li, Min Huang, Pei Li, Zijiang Zhao, Yanling Yang

P45. Clinical and gene mutation analysis of methylmalonicacademia cblA type in 11 children
Huishu E, Lianshu Han

P46. Clinical analysis and outcome of patients with c.482G>A variant in cblC type methylmalonicacidemia
Lianshu Han, Huishu E

P47. The phenotypes and genotypes of Chinese patients with propionic acidemia
Yi Liu, Yuan Ding, Dongxiao Li, Lulu Kang, Ying Jin, Yao Zhang, Jinqing Song, Hui Dong, Haixia Li, Yanling Yang

P48. Gene mutation analysis in 98 propionic aciemia patients
Lili Liang, Lianshu Han

P49. Genotypes of 1160 patients with methylmalonic acidemia
Huishu E, Lianshu Han

P50. Newborn Screening for Methylmalonic Acidemia in Henan Province by Tandem Mass Spectrometry
Min Ni, Liwen Wang, Suna Liu, Chenlu Jia, Xiaole Li, Shengju Ma, Yanru Li, Yunjia Ouyang, Kun Ma, Dehua Zhao

P51. Preliminary application of second-tier test used in newborn screening by tandem mass spectrometry in Zhejiang province, China
Zhenzhen Hu, Jianbin Yang, Xinwen Huang, Rulai Yang, Lingwei Hu, Chao Zhang, Shiqiang Shang, Dingwen Wu, Yu Zhang, Zhengyan Zhao

P52. Routine Newborn Screening for MMA – What are the implications?
Kishore KUMAR, Nandini Nagar, Girish S.V.

P53. Clinical application of LC-MS/MS in the follow-up for treatment of children with Methylmalonic Aciduria
Yanyun Wang

P54. High Resolution melting analysis as second tier molecular test for citrin deficiency in newborn screening
Pinwen Chen, Liwen Hsu, Shuchuan Chiang, Shiaofang Wang, Lihsin Chen, Yinhsiu Chien

P55. Research of a Family with a heterozygous mutation of HPD(c.460G>A)
Chenlu Jia, Suna Liu, Yuan Tian, Linlin Zhang, Liting Jia

P56. Screening of MCAD deficiency in Japan:18 years' experience of enzymatic and genetic evaluation
Keiichi Hara, Satoshi Okada, Junko Aisaki, Go Tajima

P57. Pilot study of expanded newborn screening for 573 genes related to severe diseases in China: results from 1173 newborns
Xiaomei Luo, Huiwen Zhang, Yongguo Yu, Xuefan Gu

P58. Retrospective analysis of 5 cases of hypermethioninemia
Zhilei Zhang, Yun Sun, Yanyun Wang, Dingyuan Ma, Wei Cheng, Tao Jiang

P59. Description of the molecular and phenotypic spectrum of Aromatic L-amino acid decarboxylase deficiency in Thirteen Chinese Mainland patients
Weiqian Dai, Yongguo Yu

P60. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: a patient with severe metabolic acidosis carrying two novel mutations
Hao Liu, Jingkun Miao, Chaowen Yu, Kexing Wan, Juan Zhang, Zhaojian Yuan, Jing Yang, Lin Zou, Dongjuan Wang

P61. A girl with maternal 3-methylcrotonyl-glycinuria detected by newborn screening
Ruxuan He, Lulu Kang, Yi Liu, Ying Jin, Mengqiu Li, Yanling Yang

P62. Detection of methylmalonic acid, methylcitric acid and total homocysteine in dried blood spots using a modified LC-MS/MS method
Yi Liu, Lulu Kang, Junjuan Wang, Ying Jin, Mengqiu Li, Jinqing Song, Haixia Li, Yanling Yang

P63. Clinical manifestations of patients with glutaric acidemia type I and the gene mutation analysis
Lianshu Han, Huishu E

P64. A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type Ⅱ: A case report of a Chinese family
Mingcai Ou, Lin Zhu, Yong Zhang, Qi Hu, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Wenjun Wang

P65. 3-O-Methyldopa detection in Dried Blood Spot Assist Diagnosis of Aromatic L-amino Acid Decarboxylase Deficiency
Mei Lu, Yanling Yang

P66. Application of Region 4 Stork project in suspected very long chain acyl-CoA dehydrogenase deficiency from neonatal screening detected by tandem mass spectrometry
Jianbin Yang, Chao Zhang, Zhenzhen Hu, Xinwen Huang, Rulai Yang, Shiqiang Shang, Dingwen Wu, Huaqing Mao, Lingwei Hu, Zhengyan Zhao

P67. A study for newborn screening and genotype analysis of hereditary tyrosinemia
Fan Tong

P68. ~ACADVL gene analysis of neonatal with the very long chain acyl-coA dehydrogenase deficiency
Fan Tong

P69. Detection of Vitamin B12 Deficiency by Newborn Screening for Homocystinuria
Victor Skrinska, Mamatha Ramaswamy, Rola Mitri, Monther Tahtamoni, Mamoon Alabed, Ravi Joshi, Kahlil Rama, Ghassan Abdoh, Lubna Abdein, Khadija Mohammed

P70. Newly Identified Mutations of the IVD Gene in two cases of Isovaleric Acidemia in Chinese populations
Jing Liu, Hua Wang, Huiming Yan, Zhengjun Jia

P71. Analysis of characteristics of LC-MS/MS blood amino acids and carnitine in premature infants
Caijuan Lin, Xin Fan, Guoxing Geng, Jingsi Luo, Xiaotao Huang, Fei Lin, Wei Li, Yuqi Xu

P72. Parallel determination of Nitisinone levels in dried blood spot and plasma samples of Chilean tyrosinemia 1 patients by using LCMSMS. Variability assay comparison with results reported from WellChild Laboratory, Evelina Children’s Hospital, London
Karen Fuenzalida, Patricio Guerrero, Alf Valiente, Charles Turner, Carolina Arias, Veronica Cornejo

P73. Profiling of amino acid and acylcarnitine in newborn screening dried blood of 51 cases with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) (withdrawn)
Chengfang Tang, Sichi Liu, Yi Feng, Huifen Mei, Haiping Liu, Jinwen Feng, Lixing Ye, Guoqing Wang, Li Liu, Yonglan Huang

P74. Two novel mutations in the BCKDHB gene that cause maple syrup urine disease
Bingjuan Han

P75. Clinical and gene mutation characteristics of primary carnitine deficiency found by neonatal screening
Xiaole Li

P76. Study of Screening, Diagnosis, Treatment and Genotype of Primary Carnitine Deficiency
Rulai Yang, Fan Tong, Jing Zheng, Dingwen Wu, Ying Zhou, Huaqing Mao

P77. Genetic analyses of Primary Carnitine Deficiency in Guangxi China with two novel mutations
Jinsi Luo, Mengting Li, Sheng Yi, Guoxing Geng, Xin Fan

P78. Analysis of serial mass spectrometry screening results of neonatal genetic metabolic diseases in Guangxi
Xiaotao Huang, Xin Fan, Jingsi Luo, Guoxing Geng, Caijuan Lin

P79. A simple diagnostic test for carnitin-palmitoyltransferase I deficiancy using tandem mass spectrometry
Yosuke Shigematsu, Miori Yuasa, Keiichi Sugihara, Ikue Hata, Go Tajima

P80. Neonatal screening for carnitine palmitoyltransferase II deficiency in Japan using (C16 + C18:1)/C2 and C14/C3
Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Akari Utsunomiya, Satoshi Okada, Miori Yuasa, Ikue Hata, Yosuke Shigematsu, Seiji Yamaguchi

P81. Clinical data and gene mutation analysis in carnitine palmitoyl transferase 1A deficiency patients (withdrawn)
Lianshu Han, Xuefan Gu

P82. Clinical, biochemical, and genetic heterogeneity in Carnitine Palmitoyltransferase 1A(CPT1A) Deficiency
Jing Zheng, Yaping Shen, Yanhua Xu, Dingwen Wu, Rulai Yang

P83. Peripheral blood level of carnitine in neonates and influencing factors
Hua Tang

P84. Genetic Analysis in Abnormal Metabolism of 3-hydroxyisovalerylcarnitine
Dingwen Wu, Bin Lu, Jianbin Yang, Rulai Yang, Xinwen Huang, Fan Tong, Jing Zheng, Ting Zhang, Yaping Shen, Zhengyan Zhao

P84a. Neonatal screening on tandem mass spectrometry as a powerful tool for emerging and underestimated diseases in newborns and their parents: the experience of Catania screening center
MariaAnna Messina, Federica Raudino, Riccardo Iacobacci, Concetta Meli, Agata Fiumara

P85. Newborn and high-risk screening of Gaucher disease in Japan
Takaaki Sawada, Ken Momosaki, Jun Kido, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura

P86. Multiplex-measurement of enzyme activity for lysosomal storage disorders using LC-MS/MS
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama

P87. Successful newborn screening for Gaucher disease using fluorometric assay in Shanghai
Huiwen Zhang

P88. Clinical, biochemical analysis and genetic features of four China case with mucopolysaccharidosis IIIC
Xiaolan Gao

P89. Review of Prospective Newborn Screening Results for Lysosomal Storage Disorders
Bradford Therrell

P90. Clinical Performance Evaluation of the NeoLSD™ MSMS kit for Lysosomal Storage Disorder (LSD) Newborn Screening
Hanne Lindroos, Katja Vaahtera, Ariel Cohen, Marta J Thorbek, Allan M Lund, Jaana Kantola, Pekka Mattsson, Axel Meierjohann, David M Hougaard

P91. Tier 1 and tier 2 mass spectrometry methodologies for determining enzymatic defects associated with Krabbe disease
Collin Hill

P92. Tier 1 screening for enzyme deficiencies associated with GAMT (guanidinoacetate methyltransferase) using flow-injection MS/MS
Collin Hill

P93. Tier 2 resampling from contrived positive DBS for X-ALD (X-linked andrenoleukostrophy) using the QSight® 225 MD
Collin Hill

P94. Tier 1 and tier 2 mass spectrometry methodologies for determining enzymatic defects associated with Pompe disease
Collin Hill

P95. Multiplexed tier 1 and tier 2 mass spectrometry methodologies for determining disorders associated with inborn errors of lipid metabolism
Collin Hill

P96. Seven-plex MS/MS method to measure I2S, NAGLU, GALNS, GLB1, ARSB, GUSB, and TPP1 enzyme activities in DBS on a PE QSight® 220 CR
Tao He, Joe Trometer, Collin Hill, Mike Timmons, Tsun Au Yeung, Brian Williamson

P97. A Rapid Multi-plex MS/MS Assay for Lysosomal Storage Disorders
Tao He, Joe Trometer, Collin Hill, Mike Timmons, Tsun Au Yeung, Brian Williamson

P98. High-risk screening for Gaucher disease via dried blood spot in China
Xuefang Jia, Yi Feng, Yonglan Huang

P99. Analysis of 30554 neonatal disease screening of thalassemia in Huangshi City
Haiyan Ke, Hong Jiang

P100. Analysis  of 30554 neonatal disease case of thalassemia  screening in Huangshi city (withdrawn)
Hong Jiang

P101. Challenges of Integrating Screening for Hemoglobin Disorders into the Philippine Newborn Screening Program
Carmencita Padilla, Melanie Liberty Alcausin, Reynaldo de Castro, Ma. Elouisa Reyes, Charity Jomento, Riza Concordia Suarez, Conchita Abarquez, J Edgar Winston Posecion, Anna Lea Elizaga, Alma Panganiban, Bernadette Mendoza, Ma. Paz Virgnia Otayza, Bradford Therrell, Carolyn Hoppe

P102. Neonatal screening of α-thalassemia by capillary electrophoresis for 78449 neonates in Guangxi Region of Southern China
Xunzhao Zhou, Yangjin Zuo, Li Lin, Liang Wang, Qiuli Chen, Sheng He, Biyan Chen, Xin Fan

P103. Correlation between HPLC and CE values, and alpha globin gene mutations of Filipino newborns screened for Alpha Thalassemia
Catherine Lynn Tipton Silao, Carmencita David Padilla, Terence Diane Fabella, Emilyne Fe Malaque, Anna Lea Elizaga, Edgar Winston Posecion, Conchita Abarquez, Bernadette Mendoza, Alma Panganiban-Andal, Maria Paz Otayza, Charity Jomento, Maria Melanie Liberty Alcausin, Carolyn Hoppe, Bradford Therrell

P104. Prevalence of common HBA1 and HBA2 mutations in Filipino newborns screened positive for Alpha Thalassemia
Catherine Lynn Tipton Silao, Terence Diane Fabella, Ernesto Yuson, Maria Liza Naranjo, Carmencita David Padilla

P105. Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen newborns
Wei Wen, Meng Guo, Hongbing Peng, Li Ma

P106. The use of Capillary Electrophoresis for newborn screening of hemoglobinopathies: preliminary analytical performances of Capillarys 3 Tera, Sebia
Philippe Reymond, Jean-Baptiste Clement, Florence Hologne, Maryam Ghaouar, Pauline Damiot, Denis Simonin, Frederic Robert

P107. Including Classical Galactosaemia in the Expanded Newborn Screening Panel using tandem mass spectrometry for galactose-1-phosphate
Arieh Cohen, Marta Baurek, Allan Lund, Morten Dunø, David Hougaard

P108. Non-invasive screening of Wilson disease in School Children: a feasibility study (withdrawn)
Nelson Tang, Joannie Hui, T.F. Leung

P109. Reliability of a Multiplex qPCR Assay for the Newborn Screening of SCID, SMA and XLA
Cristina Gutierrez-Mateo, Galina Filippov, Joel W. Richards, Stephanie Dallaire, David Goldfarb, Rongcong Wu

P110. A demonstration of the robustness of a 4-plex qPCR assay that detects SMN1, TREC, KREC and RPP30
Stephanie Dallaire, Cristina Gutierrez-Mateo, Galina Filippov, Joel Richards, David Goldfarb, Rongcong Wu

P111. Newborn Screening Facilitates Early Diagnosis of Spinal Muscular AtrophyNewborn Screening Facilitates Early Diagnosis of Spinal Muscular Atrophy
Mei-Ying Liu, Hsiao-Jan Chen, Li-Yun Wang, Yun-Hui Chou, Szu-Hui Chiang, Shu-Min Kao, Hui-Chen Ho, Kwang-Jen Hsiao, Yuh-Jyh Jong

P112. Newborn Screening of Congenital Toxoplasmosis Infection in northern Taiwan
Hsiao-Jan Chen, Ying-Hsuan Chung, Kai-Ting Wen, Hsuan-Chieh Liao, Mei-Ying Liu, Shu-Min Kao, Kwang-Jen Hsiao, Pei-Chen Tsao

P113. Newborn Screening of Congenital Cytomegalovirus Infection in Northern Taiwan
Hsiao-Jan Chen, Ying-Hsuan Chung, Kai-Ting Wen, Hsuan-Chieh Liao, Mei-Ying Liu, Shu-Min Kao, Kwang-Jen Hsiao, Pei-Chen Tsao

P114. Screening of inborn genetic disorders X-ALD, ADA-SCID, ASA-LD and OTCD with specific new analytes included in the NeoBase™ 2 Non-derivatized MSMS kit
Heidi Appelblom, Tero Lehtonen, Jenny-Maria Brozinski, Dorley Christine, Margo McKinlay, Tuukka Pölönen, Aki Koivu, Katja Vaahtera

P115. Clinical Performance of the GSP® Neonatal Creatine Kinase –MM kit for Duchenne Muscular Dystrophy (DMD) Newborn Screening in the US and European Population
Hanna Polari, David Hougaard, Mei Baker, Teemu Korpimäki, Tuukka Pölönen, Liisa Meriö, Kristin Skogstrand, Sari Airenne, Michele Lloyd-Puryear, Annie Kennedy, Lisa Vershave, Anne Timonen

P116. Newborn screening for X-linked adrenoleukodystrophy by LC-MS/MS
Hsiao-Jan Chen, Yi-Hui Huang, Mei-Ying Liu, Shu-Min Kao

P117. A demonstration of the robustness of a 4-plex qPCR assay that detects SMN1, TREC, KREC and RPP30
Stephanie Dallaire

P118. Development of hear loss genetic screening in Newborn using MALDI TOF assay
Li-yun Wang, Hui-chen Ho, Shu-Ming Chang, Chien-Hsing Lin

P119. Evaluation of a Suitable CK-MM Assay in Newborn Screening for Duchenne Muscular Dystrophy
Mei Baker, Mandie Loehe, Kelly Klockziem, Michael Lasarev

P120. Metabolic pathway and diagnostic markers analysis of Congenital Heart Disease based on Metabolomics
Yahong Li, Yun Sun, Xiaojuan Zhang, Yan Wang, Lulu Meng, Ran Zhou, Xiaoyan Zhou, Chunyu Luo, Ping Hu, Tao Jiang, Zhengfeng Xu

P121. Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers of Chinese X-linked adrenoleukodystrophy
Guoli Tian, Feng Xu, Yanmin Wang, Wei Ji

P122. Clinical Application of Chromosome Microarray Analysis in a Case of Sex Chromosome Abnormality
Ling Zhu, Rulai Yang, Dingwen Wu

P123. Pseudodeficiency alleles effect the fluorescence assay of acid α-glucosidase activity for newborn screening of glycogen storage disease typeⅡ
Ting Chen, Wenjuan Qiu

P124. Misdiagnosis of three boys in one family with Xp21 contiguous gene deletion syndrome
Mei Lu, Yanling Yang

P125. PCR amplicon-based NGS panel for newborn IEM
Yongchao Guo

P126. The SLC26A4 Gene Mutations in Children With Deafness and Large Vestibular Aqueduct Syndrome
Jun Li, Xiang Dai

P127. Phenotypic and genetic analysis of a child featuring multiple malformations due to 10p13p15.3 duplication
Xiaocha Xu, Ting Zhang, Yaping Shen, Jing Zheng, Rulai Yang

P128. A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum
Ting Zhang, Xinwen Huang

P129. Two novel mutations of ornithine transcarbamylase gene identified from three Chinese ornithine transcarbamylase deficiency patients
Yaping Shen, Jing Zheng

P130. A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing
Fengchang Qiao, Ping Hu, Zhengfeng Xu

P131. GNPTAB Mutation Causes Mucolipidosis II: A Chinese Case Report
Fengchang Qiao, Ping Hu, Zhengfeng Xu

P132. Functional characterization of argininosuccinate lyase gene variants by mini-gene splicing assay
Yanyun Wang

P133. The Clinic Practice to screen and diagnose multiple inherited metabolic diseases in high risk patient by use of GC-MS
Jianhui Jiang, Weihong Zeng,Shu Liu, Xunjie Xie, Weihong Zeng,Shu Liu, Xunjie Xie, Qun Jin

P134. Rapid UPLC-MS/MS Dried Blood Spot Analysis of Steroid Hormones using the Xevo TQ-S micro for Clinical Research
Dominic Foley, Heather Brown, Lisa Calton

P135. Discriminant Analysis of Two Kinds of Amino Acid  Metabolic Disease by Gas Chromatography-Mass Spectrometry  Combined  with  Chemometrics
Guoxing Geng, Xin Fan, Haiyang Zheng, Jingsi Luo, Caijuan Lin, Xiaotao Huang, Shaoke Chen

P136. The use of 2nd tier tests in newborn screening for the determination of metabolites by tandem mass spectrometry to improve performance of newborn screening for Inborn Error of Metabolism (IEM)
Emilie Mas, Rosemarie Gerace

P137. A retrospective analysis of inherited metabolic diseases by gas chromatography-mass spectrometry
Guoli Tian, Zhuo Zhou, Jing Guo, Yanmin Wang, Wei Ji

P138. A verification of the application of the non-derivatized mass spectrometry method in newborns screening of metabolic disorders
Wenbin Zhu, Yulan Zheng

P139. Design and implementation of 16 quality indices for neonatal screening in information management system
Yao Chen, Wenbin Zhu, Guanghua Liu

P140. Development and Application of Tracking System by Cold Chain Logistics inManagement of Neonatal Screening Specimens
Huaqing Mao

P141. Ensuring quality outcomes by integrating long term care for confirmed cases at the Philippine Newborn Screening Program
Carmencita Padilla, Melanie Liberty Alcausin, Karen Panol, Frederick David Beltran, Noel Juban

P142. The National Newborn Screening Laboratory in Qatar - Continuous Progress
Rola Mitri, Victor Skrinska, Mamatha Ramaswamy, Ravi Joshi, Monther Tahtamoni, Mamoon Alabed, Ghassan Abdoh, Lubna Abdein, Khadija Mohammed, Kahlil Rama

P143. Accreditation of Newborn Screening Centers in the Philippine Setting
Charity Jomento, Jovy Lising, Margarita Aziza Canlas, Maria Truda Escoreal, Karen Panol, Noel Juban, Carmencita Padilla, Bradford Therrell, Veronica Wiley

P144. Internal Quality Control for Newborn Screening by Tandem Mass Spectrometry
Szu-Hui Chiang, Mei-Ling Fan, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Hui-Chen Ho, Guoxing Geng, Xin Fan, Yu-Shih Shiau Shiau, Kwang-Jen Hsiao

P145. Comparison of the TSH and OHP Values Between the Initial Contaminated and the Repeat Acceptable NBS Samples
Conchita Abarquez

P146. Expanded newborn screening in Chile (26 conditions); results of a pilot program
Veronica Cornejo, Alf Valiente, Juan Francisco Cabello, Gabriel Lobos, Carmen Gloria Berrios, Susana Valdebenito

P147. Revival of a newborn screening program in the People’s Democratic Republic of Laos
Thomas Hoehn, Saysanasongkham Bounnack

P148. The analysis of unrecalled suspicious positive items during the neonatal disease screening from 2005 to 2017 in Shanxi Province
Hongmei Zhang

P149. Quality analysis of neonatal screening from 1989 to 2017 in Beijing
Jinqi Zhao, Haihe Yang, Nan Yang, Lifei Gong, Yuanyuan Kong

P150. Where are they now? Long term follow up of patients with amino acid disorders screened for in NSW (excluding phenylketonuria)
Zena Junek, Veronica Wiley, Carolyn Ellaway

P151. Philippine PEAS: Over 15 years of experience in program monitoring and evaluation
Karen Asuncion Panol, Riza Concordia Suarez, Jovy Ann Lising, Frederick David Beltran, Lita Orbillo, Carmencita Padilla

P152. The Retrospect and Prospect of Neonatal Screening for Inherited metabolic disease in the city of Wuhan over two decades
Wenqian Cai, Xijiang Hu, Shanshan Shen

P153. Raising Awareness about Newborn Screening in the Philippines
Vina Mendoza, Carmencita Padilla, Riza Concordia Suarez, Ma. Elouisa Reyes, Anthony James Almazan, Rosemarie Aguirre

P154. Analysis of 1.26 million newborns' disease screening in Guangxi
Yuqi Xu, Xin Fan, Caijuan Lin, Xiaotao Huang, Wei Li

P155. Cost benefit analysis of newborn mass screening for phenylketonuria and congenital hypothyroidism in Korea
Dong-Hwan Lee, Jeongho Lee

P156. 10-year analysis of inherited metabolic diseases diagnosed with Tandem Mass Screening test in Korea
Jeongho Lee, Dong-Hwan Lee

P157. Expanded newborn screening for inborn error of metabolism using tandem mass spectrometry in Thailand
S.Liammongkolkul, K. Sanomcham,  A. Sathienkijkanchai, N.Vatanavicharn , P. Wasant

P158. An Assessment on the Performance of the Different Courier Service Providers in the Mindanao Newborn Screening Program
Sheila Mae Guilaran, Conchita Abarquez

P159. Newborn Screening Program in Saudi Arabia: An Overview
Ali Alodaib, Lujane Y. AlAhaidib, Amal Saadallah

P160. Response Time of Newborn Screening Coordinators to Late Newborn Screening Samples
Perly Bermudez, Conchita Abarquez

P161. Newborn Screening Technical assistance Evaluation Program (NewSTEPs): A Model Resource Center for US Newborn Screening Programs
Sikha Singh, Jelili Ojodu

P162. Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing
Jinqi Zhao, Lifei Gong, Haihe Yang, Yuanyuan Kong

P163. Routine Newborn Screening of Newborns – Why can’t ISNS & other International organisations make it mandaotry?
Kishore Kumar, Nandini Nagar, Girish S.V.

P164. Results from a pilot study evaluating 26 additional target disorders for the German newborn screening panel
Gwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, Glynis Klinke, Peter Monostori, Jürgen G. Okun, Georg F. Hoffmann

P165. Newborn Screening Program by Tandem Mass Spectrometry for Inborn Metabolic Disease in South China : Incidence, Genetic Characteristics, and Clinical Outcome
Zhengjun JiaA, Jing Liu, Yanghui Zhang, Hua Tang, Hui Xi, Jing Chen, Junqun Fang, Donghua Xie, Hua Wang

P166. The results of 1.1 million newborns screening by tandem mass spectrometry in Shanghai China (withdrawn)
Lianshu Han, Jun Ye, Xuefan Gu

P167. 14 years experience in expand Newborn Screening using MSMS and confirmation positive results in KFSHRC Riyadh, Saudi Arabia
Mohamed S Alamoodi

P168. Overview of Newborn Screening Program of Bionet Vietnam Newborn Screening Center
Hai Luyen Quoc, Hoan Vu Thi Thanh, Hoai Nguyen Thi, Mai Do Thi Thu, Hue Pham Thi

P169. Utilizing a national data system for newborn screening improvement
Ma Elouisa Reyes, Carmencita Padilla, Riza Concordia Suarez, Noel Juban

P170. Screening of inherited metabolic diseases in 20307 Li nationality newborns
Jie Wang

P171. Provincial distribution o cases detected through newborn screening in the Philippines
Ma Elouisa Reyes, Carmencita Padilla, Noel Juban

 

 

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