Special Issue "Advances in Neonatal Metabolic Disorders"

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Neonatology".

Deadline for manuscript submissions: 15 March 2024 | Viewed by 103

Special Issue Editor

Dr. Anna-Kaisa Niemi
E-Mail Website
Guest Editor
1. Rady Children's Hospital, San Diego, CA 92123, USA
2. Division of Neonatology, Department of Pediatrics, University of California, San Diego, CA 92093, USA
Interests: neonatal metabolic disorders; hyperammonemia; mitochondrial disorders; methylmalonic acidemia; whole genome sequencing in neonatal metabolic disorders; neonatal genetic diseases; integrative medicine; wellness/wellbeing

Special Issue Information

Dear Colleagues,

We welcome you to submit an article to a Special Issue on the “Advances in Neonatal Metabolic Disorders” in Children (IF 2.4). Metabolic disorders presenting during the neonatal period or early infancy often have a high morbidity and mortality without a timely diagnosis or initiation of treatment. Advances in screening for and diagnosis of metabolic disorders, including expanded newborn screening, whole exome and whole genome sequencing, have made early diagnosis and initiation of therapies possible. Novel and improved therapies such as small molecule or substrate replacement therapy, enzyme replacement therapy and organ transplantation have made it possible to treat conditions that had no treatment in the past. This Special Issue on “Advances in Neonatal Metabolic Disorders” focuses on the advances in the diagnosis and management of neonatal metabolic disorders. It also welcomes studies on long-term outcomes of neonatal metabolic disorders.

Dr. Anna-Kaisa Niemi
Guest Editor

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 submissions that pass pre-check are 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. Children is an international peer-reviewed open access monthly 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 2400 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.


  • neonatal metabolic disorders
  • newborn screening
  • inborn errors of metabolism
  • organic acidemias
  • mitochondrial disorders
  • whole exome sequencing
  • whole genome sequencing

Published Papers

This special issue is now open for submission.
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