Special Issue "Newborn Screening for Pompe Disease"

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: 31 December 2019.

Special Issue Editors

Prof. Dr. Wuh-Liang Hwu
E-Mail Website
Guest Editor
Department of Pediatrics, National Taiwan University Hospital, Taipei 10041, Taiwan
Interests: inborn errors of metabolism; newborn screening; gene therapy; next generation sequencing
Prof. Dr. Yin-Hsiu Chien
Guest Editor
Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan
Dr. Raymond Wang
Guest Editor
Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA 92868, USA

Special Issue Information

Dear Colleagues,

Newborn screening is important for the early diagnosis and treatment of Pompe disease. The initial successes of Pompe disease newborn screening were from Taiwan, and currently, a good number of newborn screening programs have already started or are in the planning stages. However, screening for Pompe disease is not without its difficulties. There are a few assays available for screening. The accuracy of the assay as well as the screening algorithm determine the false positive and negative rates. Confirming diagnosis can be difficult, and genotype–phenotype correlation may not be established. Decision about when to initiate treatment, especially for late-onset Pompe disease, is difficult. To add to this, all these problems are further diverse among different ethnic groups. Therefore, we think it is the right time to organize a Special Issue on Pompe disease newborn screening in the International Journal of Neonatal Screening. Through this Special Issue, experts in the field of newborn screening can share experiences in Pompe disease and help to accumulate data concerning prevalence, genotype, and phenotypes. More general readers of the Journal can also have the chance to understand Pompe disease and its screening. We think this Special Issue is just in time, and we thank all contributing authors in advance.

Prof. Dr. Wuh-Liang Hwu
Prof. Dr. Yin-Hsiu Chien
Dr. Raymond Wang
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • Newborn screening
  • Pompe disease
  • Pseudodeficiency
  • Genotype–phenotype correlation
  • Treatment and follow up

Published Papers

This special issue is now open for submission.
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