Advances in Pediatric Metabolic Disorders
A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Endocrinology".
Deadline for manuscript submissions: 30 October 2024 | Viewed by 42
Special Issue Editor
2. Division of Neonatology, Department of Pediatrics, University of California, San Diego, CA 92093, USA
Interests: pediatric metabolic and genetic disorders; hyperammonemia; mitochondrial disorders; methylmalonic acidemia; whole genome sequencing in neonatal metabolic disorders
Special Issue Information
Dear Colleagues,
We welcome you to submit papers to this Special Issue on “Advances in Pediatric Metabolic Disorders” in Children (IF 2.4). Metabolic disorders presenting during the neonatal period or childhood can have, without timely diagnosis or initiation of treatment, a high morbidity and mortality. Advances in screening for and diagnosis of metabolic disorders, including expanded newborn screening and whole exome and genome sequencing, have made early diagnosis and initiation of therapies possible. Novel and improved therapies have further made it possible to treat conditions that had no treatment in the past. These patients typically need long-term follow-up by subspecialists and may be at risk of developmental delay or other comorbidities. This Special Issue on “Advances in Pediatric Metabolic Disorders” focuses on the advances in the diagnosis, management, and long-term prognosis of neonatal and pediatric 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.
Keywords
- pediatric
- neonatal
- hyperammonemia
- urea cycle disorder
- organic acidemia
- mitochondrial
- metabolic
- inborn error of metabolism
