Literature DB >> 31392193

Newborn screening: Taiwanese experience.

Yin-Hsiu Chien1,2, Wuh-Liang Hwu1,2, Ni-Chung Lee1,2.   

Abstract

Newborn screening (NBS) aims to diagnose patients with Pompe disease earlier so that timely treatment can be applied. We describe the evolution of the screening methods in Taiwan with a population in which a pseudodeficiency variant is prevalent. We review and update the outcome of NBS-identified patients and discuss the limitations of the current therapy. We also address the challenges associated with caring for the babies with diagnosed acid alpha-glucosidase deficiency but yet without significant clinical manifestations. Further modifications of the current treatment and better predictive biomarkers should be explored.

Entities:  

Keywords:  Pompe disease; acid α-glucosidase; enzyme replacement therapy (ERT); newborn screening (NBS); second-tier

Year:  2019        PMID： 31392193      PMCID： PMC6642927          DOI： 10.21037/atm.2019.05.47

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN： 2305-5839


  26 in total

1.  Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.

Authors:  Néstor A Chamoles; Gabriela Niizawa; Mariana Blanco; Daniela Gaggioli; Carina Casentini
Journal:  Clin Chim Acta       Date:  2004-09       Impact factor: 3.786

2.  Rapid progressive course of later-onset Pompe disease in Chinese patients.

Authors:  Chih-Chao Yang; Yin-Hsiu Chien; Ni-Chung Lee; Shu-Chuan Chiang; Shuan-Pei Lin; Yung-Ting Kuo; Shun-Sheng Chen; Yuh-Jyh Jong; Wuh-Liang Hwu
Journal:  Mol Genet Metab       Date:  2011-06-22       Impact factor: 4.797

3.  Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

Authors:  Paul Labrousse; Yin-Hsiu Chien; Robert J Pomponio; Joan Keutzer; Ni-Chung Lee; Viatcheslav R Akmaev; Thomas Scholl; Wuh-Liang Hwu
Journal:  Mol Genet Metab       Date:  2009-12-28       Impact factor: 4.797

4.  Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

Authors:  Yin-Hsiu Chien; Ni-Chung Lee; Hsiang-Ju Huang; Beth L Thurberg; Fuu-Jen Tsai; Wuh-Liang Hwu
Journal:  J Pediatr       Date:  2011-01-13       Impact factor: 4.406

5.  Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.

Authors:  Yin-Hsiu Chien; Ni-Chung Lee; Shinn-Forng Peng; Wuh-Liang Hwu
Journal:  Pediatr Res       Date:  2006-07-20       Impact factor: 3.756

6.  Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.

Authors:  Shohei Shigeto; Tatsuya Katafuchi; Yuya Okada; Kimitoshi Nakamura; Fumio Endo; Torayuki Okuyama; Hiroaki Takeuchi; Marian A Kroos; Frans W Verheijen; Arnold J J Reuser; Toshika Okumiya
Journal:  Mol Genet Metab       Date:  2011-01-22       Impact factor: 4.797

7.  Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

Authors:  Yin-Hsiu Chien; Ni-Chung Lee; Beth L Thurberg; Shu-Chuan Chiang; Xiaokui Kate Zhang; Joan Keutzer; Ai-Chu Huang; Mei-Hwan Wu; Pei-Hsin Huang; Fuu-Jen Tsai; Yuan-Tsong Chen; Wuh-Liang Hwu
Journal:  Pediatrics       Date:  2009-12       Impact factor: 7.124

8.  Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase".

Authors:  Youichi Tajima; Fumiko Matsuzawa; Sei-Ichi Aikawa; Toshika Okumiya; Michiru Yoshimizu; Takahiro Tsukimura; Masahiko Ikekita; Seiichi Tsujino; Akihiko Tsuji; Tim Edmunds; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2007-09-06       Impact factor: 3.172

9.  Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

Authors:  Yin-Hsiu Chien; Shu-Chuan Chiang; Xiaokui Kate Zhang; Joan Keutzer; Ni-Chung Lee; Ai-Chu Huang; Chun-An Chen; Mei-Hwan Wu; Pei-Hsin Huang; Fu-Jen Tsai; Yuan-Tsong Chen; Wuh-Liang Hwu
Journal:  Pediatrics       Date:  2008-06-02       Impact factor: 7.124

10.  p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Authors:  Marian A Kroos; Reinier A Mullaart; Laura Van Vliet; Robert J Pomponio; Hernan Amartino; Edwin H Kolodny; Gregory M Pastores; Ron A Wevers; Ans T Van der Ploeg; Dicky J J Halley; Arnold J J Reuser
Journal:  Eur J Hum Genet       Date:  2008-02-27       Impact factor: 4.246
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  10 in total

1.  Phenotypic implications of pathogenic variant types in Pompe disease.

Authors:  Manuel A Viamonte; Stephanie L Filipp; Zara Zaidi; Matthew J Gurka; Barry J Byrne; Peter B Kang
Journal:  J Hum Genet       Date:  2021-05-11       Impact factor: 3.172

Review 2.  Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective.

Authors:  Raymond Saich; Renee Brown; Maddy Collicoat; Catherine Jenner; Jenna Primmer; Beverley Clancy; Tarryn Holland; Steven Krinks
Journal:  Int J Neonatal Screen       Date:  2020-01-09

3.  Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges.

Authors:  Laurie D Smith; Matthew N Bainbridge; Richard B Parad; Arindam Bhattacharjee
Journal:  Int J Neonatal Screen       Date:  2020-04-05

4.  Quality of life and its contributors among adults with late-onset Pompe disease in China.

Authors:  Shanquan Chen; Jingxuan Wang; Jianfeng Zhu; Roger Yat-Nork Chung; Dong Dong
Journal:  Orphanet J Rare Dis       Date:  2021-05-01       Impact factor: 4.303

5.  At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.

Authors:  Zoltan Lukacs; Petra Oliva; Paulina Nieves Cobos; Jacob Scott; Thomas P Mechtler; David C Kasper
Journal:  Int J Neonatal Screen       Date:  2020-12-21

6.  Current status of newborn screening for Pompe disease in Japan.

Authors:  Takaaki Sawada; Jun Kido; Keishin Sugawara; Ken Momosaki; Shinichiro Yoshida; Kanako Kojima-Ishii; Takahito Inoue; Shirou Matsumoto; Fumio Endo; Shouichi Ohga; Shinichi Hirose; Kimitoshi Nakamura
Journal:  Orphanet J Rare Dis       Date:  2021-12-18       Impact factor: 4.123

7.  Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.

Authors:  Udara Dilrukshi Senarathne; Eresha Jasinge; Sarojini Viknarajah Mohan; Samantha Waidyanatha
Journal:  BMJ Case Rep       Date:  2022-03-09

8.  Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Authors:  Douglas O S de Faria; Stijn L M In 't Groen; Marianne Hoogeveen-Westerveld; Monica Y Nino; Ans T van der Ploeg; Atze J Bergsma; W W M Pim Pijnappel
Journal:  Hum Mutat       Date:  2020-12-21       Impact factor: 4.878

9.  Newborn Screening for Pompe Disease: Pennsylvania Experience.

Authors:  Can Ficicioglu; Rebecca C Ahrens-Nicklas; Joshua Barch; Sanmati R Cuddapah; Brenda S DiBoscio; James C DiPerna; Patricia L Gordon; Nadene Henderson; Caitlin Menello; Nicole Luongo; Damara Ortiz; Rui Xiao
Journal:  Int J Neonatal Screen       Date:  2020-11-13

10.  Breastmilk as a Multisensory Intervention for Relieving Pain during Newborn Screening Procedures: A Randomized Control Trial.

Authors:  Hsiang-Yun Lan; Luke Yang; Chiao-Hsuan Lin; Kao-Hsian Hsieh; Yue-Cune Chang; Ti Yin
Journal:  Int J Environ Res Public Health       Date:  2021-12-10       Impact factor: 3.390
  10 in total

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