Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publish clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists.
JIEMS aims to become a key resource for geneticists, genetic counselors, biochemists, molecular biologists, reproductive medicine researchers, obstetricians/gynecologists, neonatologists, pediatricians, pathologists and other health professionals interested in inborn errors of metabolism and screening.
This journal is published since 2013 as one volume per year, with continuous publication of manuscripts.
It is a member of the Committee on Publication Ethics (COPE) and it is the official journal of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN).
All articles published by JIEMS are made open access under a Creative Commons license.
|Scientific Electronic Library Online - SciELO|
All content of the journal, except where identified, is licensed under a Creative Commons attribution-type CC-BY.
|SLEIMPN - https://www.sleimpn.org/|
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EDITOR-IN-CHIEF: Roberto Giugliani (Universidade Federal do Rio Grande do Sul – UFRGS, Porto Alegre, RS, Brasil). Lattes: http://lattes.cnpq.br/8023869177216297. ORCID: https://orcid.org/0000-0001-9655-3686. E-mail: email@example.com.
ASSOCIATE EDITOR: Guilherme Baldo (Universidade Federal do Rio Grande do Sul – UFRGS, Porto Alegre, RS, Brasil). Lattes: http://lattes.cnpq.br/2931036303075761. ORCID: https://orcid.org/0000-0003-1598-5861. E-mail: firstname.lastname@example.org.
Adriana Montaño (Saint Louis University - SLU, St. Louis, MO, United States of America). ORCID: https://orcid.org/0000-0002-3971-5789. E-mail: email@example.com.
Alexandra Latini (Universidade Federal de Santa Catarina - UFSC, Florianópolis, SC, Brazil). Lattes: http://lattes.cnpq.br/2997646137447229. ORCID: https://orcid.org/0000-0003-4255-3589. E-mail: firstname.lastname@example.org.
Brian Bigger (University of Manchester, Manchester, United Kingdom). ORCID: https://orcid.org/0000-0002-9708-1112. E-mail: email@example.com.
Carmencita Padilla (University of the Philippines - UP, Manila, Philippines). ORCID: https://orcid.org/0000-0002-5812-1871. E-mail:firstname.lastname@example.org.
Charles Marques Lourenço (Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil). Lattes: http://lattes.cnpq.br/7459167706963754. ORCID: https://orcid.org/0000-0002-2296-6098. E-mail: email@example.com.
Dianne Webster (LabPlus, Auckland, New Zealand). ORCID: https://orcid.org/0000-0003-4518-0626. E-mail: DianneW@adhb.govt.nz.
Gerard Loeber (International Society for Neonatal Screening - ISNS, Utrecht, Netherlands). E-mail: firstname.lastname@example.org.
Gloria Duran (Pontificia Universidad Católica de Chile, Santiago, Chile). ORCID: https://orcid.org/0000-0002-3731-9299. E-mail: email@example.com.
Graciela Queiruga (Banco de Provisión Social - BPS, Montevideo, Uruguay). ORCID: https://orcid.org/0000-0002-5603-3499. E-mail: firstname.lastname@example.org.
Greg Enns (Lucile Packard Children's Hospital Stanford - LPCH, Palo Alto, CA, United States of America). ORCID: https://orcid.org/0000-0001-9968-0840. E-mail: email@example.com.
Gregory Pastores (University College Dublin - UCD, Dublin, Ireland). ORCID: https://orcid.org/0000-0003-0945-313X. E-mail: firstname.lastname@example.org.
Hernan Amartino (Hospital Universitario Austral, Buenos Aires, Argentina). ORCID: https://orcid.org/0000-0003-2227-0653. E-mail: HAMARTIN@cas.austral.edu.ar.
Ida Vanessa D. Schwartz (Universidade Federal do Rio Grande do Sul – UFRGS, Porto Alegre, RS, Brazil). Lattes: http://lattes.cnpq.br/3850836744210522. ORCID: https://orcid.org/0000-0002-7933-6687. E-mail: email@example.com.
Isabel Ibarra-González (Universidad Nacional Autonoma de Mexico - UNAM, Mexico City, Mexico). ORCID: https://orcid.org/0000-0001-8693-8531. E-mail: firstname.lastname@example.org.
José Abdenur (Children's Hospital of Orange County - CHOC, Orange, CA, United States of America). ORCID: https://orcid.org/0000-0002-4671-1241. E-mail: JAbdenur@choc.org.
José S. Camelo Jr. (Universidade de São Paulo - USP, Ribeirão Preto, SP, Brasil). ORCID: https://orcid.org/0000-0002-4555-7633. E-mail: email@example.com.
Juan F. Cabello (Universidad de Chile, Santiago, Chile). ORCID: https://orcid.org/0000-0001-6103-9724. E-mail: firstname.lastname@example.org.
Juan Politei (Fundacion para el Estudio de las Enfermedades Neurometabolicas - FESEN, Buenos Aires, Argentina). ORCID: https://orcid.org/0000-0003-3882-3136. E-mail:email@example.com.
Laura Laróvere (Universidad Nacional de Cordoba - UNC, Córdoba, Argentina). ORCID: https://orcid.org/0000-0003-2807-8806. E-mail: firstname.lastname@example.org.
Luis A. Barrera (Pontificia Universidad Javeriana, Bogotá, Colombia). ORCID: https://orcid.org/0000-0001-8287-0197. E-mail: email@example.com.
Marcela Vela-Amieva (Instituto Nacional de Pediatria - INP, Mexico City, Mexico). ORCID: https://orcid.org/0000-0001-8230-4611. E-mail: firstname.lastname@example.org.
Paula Rozenfeld (Universidad Nacional de La Plata - UNLP, Buenos Aires, Argentina). ORCID: https://orcid.org/0000-0002-2991-0468. E-mail: email@example.com.
Pilar Peredo (Universidad de Chile, Santiago, Chile). ORCID: https://orcid.org/0000-0001-7743-5836. E-mail: firstname.lastname@example.org.
Ronald Wanders (Academic Medical Center - AMC, Amsterdam, Netherlands). ORCID: https://orcid.org/0000-0001-7818-1452. E-mail: email@example.com.
Silvana Zanlungo (Pontificia Universidad Católica de Chile, Santiago, Chile). ORCID: https://orcid.org/0000-0001-8383-9829. E-mail: firstname.lastname@example.org.
Terry Derks (Beatrix Children's Hospital, University Medical Center Groningen – UMCG, Groningen, Netherlands). ORCID: https://orcid.org/0000-0002-7259-1095. E-mail: email@example.com.
Ursula Matte (Universidade Federal do Rio Grande do Sul – UFRGS, Porto Alegre, RS, Brazil). Lattes: http://lattes.cnpq.br/6515283771960950. ORCID: https://orcid.org/0000-0003-4977-6662. E-mail: firstname.lastname@example.org.
Verónica Cornejo (Universidad de Chile, Santiago, Chile). ORCID: https://orcid.org/0000-0002-8858-8499. E-mail: email@example.com.
Yoshikatsu Eto (Jikei University School of Medicine, Tokyo, Japan). ORCID: https://orcid.org/0000-0003-2628-1835. E-mail: firstname.lastname@example.org.
Assistant Technical Editors
Filippo Vairo (Mayo Clinic, Rochester, MN, United States of America). Lattes: http://lattes.cnpq.br/2014881175179909. ORCID: https://orcid.org/0000-0001-6030-1903. E-mail: email@example.com.
Francyne Kubaski (Greenwood Genetic Center, Greenwood, SC, United States of America). Lattes: http://lattes.cnpq.br/3790652474390001. ORCID: https://orcid.org/0000-0002-9330-0154. E-mail: firstname.lastname@example.org.
Graziella Rodrigues (Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil). Lattes: http://lattes.cnpq.br/9465495945227203. ORCID: https://orcid.org/0000-0003-3628-3690. E-mail: email@example.com.
Scope and policy
Original research articles published in JIEMS range from basic research with findings that have implications for disease pathogenesis and therapy, through diagnosis and screening of genetic/metabolic diseases, therapy development and evaluation of outcomes. Original articles, reviews on specific topics, brief communications and case reports are welcome.
JIEMS is an Open Access publication; all articles are freely available online immediately upon publication. All articles are rigorously peer-reviewed, and brought to publication as rapidly as possible. Production costs are covered by Article Processing Charges (APC) paid by the author/institution/funder upon acceptance of their manuscript (more information below).
Form and preparation of manuscripts
In compliance with SciELO policy, the adoption of ORCID as an identifier of the authors is mandatory. Therefore, JIEMS encourages authors to create their ORCID.
An APC of USD 400,00 (USD 200,00 the first or corresponding author is a SLEIMPN member) will be charged upon acceptance of the manuscript
This APC may be waived by SLEIMPN, in specific circumstances (main author or corresponding author who is member of SLEIMPN for 3 or more years), and by the Editor-in-Chief for invited papers.
Short communications, Case Reports, and Technical Notes submitted until December 31st, 2021, will be granted with a promotional discount of 50 % in the APC.
The list of authors should include all those who can legitimately claim authorship. This is all those who have:
Authors should meet the conditions of all of the points above. Each author should have participated sufficiently in the work to take public responsibility for appropriate portions of the content.
When a large, multicentre group has conducted the work, the group should identify the individuals who accept direct responsibility for the manuscript. These individuals should fully meet the criteria for authorship.
Acquisition of funding, collection of data, or general supervision of the research group alone does not constitute authorship, although all contributors who do not meet the criteria for authorship should be listed in the Acknowledgments section.
Please refer to the ICMJE Authorship guidelines at http://www.icmje.org/icmje-recommendations.pdf.
Before submitting your manuscript, please ensure you carefully read and adhere to all the guidelines and instructions to the authors provided below. Manuscripts that do not follow the guidelines and journal`s requirements will be returned.
Manuscripts submitted to JIEMS may not be under consideration for publication at any other journal at the time of submission and, following submission to JIEMS, may not be submitted for publication to ANY other source pending official, written notification of the final decision by JIEMS. Submission to JIEMS indicates that this is your primary choice for publication and JIEMS retains sole publication rights until a final publication decision is made.
JIEMS only charges the APC after manuscript is accepted, with no charges for submission.
JIEMS and SciELO take issues of copyright infringement, plagiarism or other breaches of best practice in publication very seriously. JIEMS uses COPE guidelines (https://publicationethics.org) to screen submitted content for originality. Plagiarism can result in manuscript rejection, a correction or retractions of the paper, as appropriate. We seek to protect the rights of our authors and we always investigate claims of plagiarism or misuse of articles published in the journal. Equally, we seek to protect the reputation of the journal against malpractice. Submitted articles may be checked using duplication-checking software. Where an article is found to have plagiarized other work or included third-party copyright material without permission or with insufficient acknowledgement, or where authorship of the article is contested, we reserve the right to take action including, but not limited to: publishing an erratum or corrigendum (correction); retracting the article (removing it from the journal); taking up the matter with the head of department or dean of the author's institution and/or relevant academic bodies or societies; or appropriate legal action.
Authors are responsible for recognizing and disclosing financial and other conflicts of interest that might bias their work. Authors should acknowledge in the manuscript all financial support for the work and other financial or personal connections to the study. If there is none, please state: The authors declare that there is no conflict of interest that could be perceived as prejudicial to the impartiality of the reported research.
Please include any declaration at the end of your manuscript after any acknowledgements and prior to the references, under a heading 'Declaration of Conflict of Interests'. If no declaration is made the following will be printed under this heading in your article: 'None Declared'. Alternatively, you may wish to state that 'The Author(s) declare(s) that there is no conflict of interest'.
Identifying information, including patients' names, initials, or hospital numbers, should not be published in written descriptions, photographs, and pedigrees unless the information is essential for scientific purposes and the patient (or parent or guardian) gives written informed consent for publication. Informed consent for this purpose requires that a patient who is identifiable be shown the manuscript to be published.
In this phase, the manuscript may be rejected or returned to the author for adjustments. If the manuscript is in accordance with the rules, it will be forwarded to the Associate Editor, who will designate, peer-reviewers for evaluation of the scientific content. Based on the peer-review, the Associate Editor makes a recommendation to the Editor-in-Chief, who will take the final decision.The process can be followed by the author in the management system. All accepted manuscripts will be edit by our publishing team to fit the journal format. After authors' approval, the manuscript will be published.
Line art must have a resolution of at least 1200 dpi (dots per inch), and electronic photographs; radiographs, CT scans, MRIs, all medical imaging, and all scanned images must have a resolution of at least 300 dpi. If fonts are used in the artwork, they must be converted to paths or outlines or they must be embedded in the files. Color images must be created/scanned, saved and submitted as CMYK files.