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About the journal


Basic Information


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.



Indexed in

  Scientific Electronic Library Online - SciELO  


Intellectual Property


All content of the journal, except where identified, is licensed under a Creative Commons attribution-type CC-BY.







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Editorial Board



  EDITOR-IN-CHIEF: Roberto Giugliani (Universidade Federal do Rio Grande do Sul – UFRGS, Porto Alegre, RS, Brasil). Lattes: ORCID: E-mail:
ASSOCIATE EDITOR: Guilherme Baldo (Universidade Federal do Rio Grande do Sul – UFRGS, Porto Alegre, RS, Brasil). Lattes: ORCID: E-mail:    


Editorial Board

  Adriana Montaño (Saint Louis University - SLU, St. Louis, MO, United States of America). ORCID: E-mail:
Alexandra Latini (Universidade Federal de Santa Catarina - UFSC, Florianópolis, SC, Brazil). Lattes: ORCID: E-mail:
Brian Bigger (University of Manchester, Manchester, United Kingdom). ORCID: E-mail:
Carmencita Padilla (University of the Philippines - UP, Manila, Philippines). ORCID:
Charles Marques Lourenço (Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil). Lattes: ORCID: E-mail:
Dianne Webster (LabPlus, Auckland, New Zealand). ORCID: E-mail:
Gerard Loeber (International Society for Neonatal Screening - ISNS, Utrecht, Netherlands). E-mail:
Gloria Duran (Pontificia Universidad Católica de Chile, Santiago, Chile). ORCID: E-mail:
Graciela Queiruga (Banco de Provisión Social - BPS, Montevideo, Uruguay). ORCID: E-mail:
Greg Enns (Lucile Packard Children's Hospital Stanford - LPCH, Palo Alto, CA, United States of America). ORCID: E-mail:
Gregory Pastores (University College Dublin - UCD, Dublin, Ireland). ORCID: E-mail:
Hernan Amartino (Hospital Universitario Austral, Buenos Aires, Argentina). ORCID: E-mail:
Ida Vanessa D. Schwartz (Universidade Federal do Rio Grande do Sul – UFRGS, Porto Alegre, RS, Brazil). Lattes: ORCID: E-mail:
Isabel Ibarra-González (Universidad Nacional Autonoma de Mexico - UNAM, Mexico City, Mexico). ORCID: E-mail:
José Abdenur (Children's Hospital of Orange County - CHOC, Orange, CA, United States of America). ORCID: E-mail:
José S. Camelo Jr. (Universidade de São Paulo - USP, Ribeirão Preto, SP, Brasil). ORCID: E-mail:
Juan F. Cabello (Universidad de Chile, Santiago, Chile). ORCID: E-mail:
Juan Politei (Fundacion para el Estudio de las Enfermedades Neurometabolicas - FESEN, Buenos Aires, Argentina). ORCID:
Laura Laróvere (Universidad Nacional de Cordoba - UNC, Córdoba, Argentina). ORCID: E-mail:
Luis A. Barrera (Pontificia Universidad Javeriana, Bogotá, Colombia). ORCID: E-mail:
Marcela Vela-Amieva (Instituto Nacional de Pediatria - INP, Mexico City, Mexico). ORCID: E-mail:
Paula Rozenfeld (Universidad Nacional de La Plata - UNLP, Buenos Aires, Argentina). ORCID: E-mail:
Pilar Peredo (Universidad de Chile, Santiago, Chile). ORCID: E-mail:
Ronald Wanders (Academic Medical Center - AMC, Amsterdam, Netherlands). ORCID: E-mail:
Silvana Zanlungo (Pontificia Universidad Católica de Chile, Santiago, Chile). ORCID: E-mail:
Terry Derks (Beatrix Children's Hospital, University Medical Center Groningen – UMCG, Groningen, Netherlands). ORCID: E-mail:
Ursula Matte (Universidade Federal do Rio Grande do Sul – UFRGS, Porto Alegre, RS, Brazil). Lattes: ORCID: E-mail:
Verónica Cornejo (Universidad de Chile, Santiago, Chile). ORCID: E-mail:
Yoshikatsu Eto (Jikei University School of Medicine, Tokyo, Japan). ORCID: E-mail:


Assistant Technical Editors

  Filippo Vairo (Mayo Clinic, Rochester, MN, United States of America). Lattes: ORCID: E-mail:
Francyne Kubaski (Greenwood Genetic Center, Greenwood, SC, United States of America). Lattes: ORCID: E-mail:
Graziella Rodrigues (Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil). Lattes: ORCID: E-mail:




Instructions to authors

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).

There is no charge for submitting a paper to JIEMS. The journal's policy is that manuscripts are reviewed by at least two expert reviewers. JIEMS utilizes a single-blind peer review process in which the reviewer's name and information is withheld from the author. All manuscripts are reviewed as rapidly as possible, while maintaining rigor. Reviewers make comments to the author`s and recommendations to the Editor-in-Chief who then makes his final decision.


Form and preparation of manuscripts



Article Types
JIEMS will consider Original Articles, Reviews on specific topics, Short Communications, Case Reports and Letters to the Editor and Technical Notes. Editorials will also be published by invitation-only.

Original Articles should contain the following sectionss: Introduction, Aims, Methods, Results, Conclusions, Acknowledgements and References or similar.

Review articles should contain a summary, an introduction to the topic, a careful review of the relevant literature, conclusions of the reviewed literature and recommendations, if applicable.

Short Communications, Case Reports, and Technical Notes should not exceed 2,500 words. The word count does not apply to figures, tables, references or supplemental material and should be stated in the title page. There is a limit of two figures, or two tables, or one figure plus one table.

Letters to the Editor should refer to a content previously published by JIEMS and should have no more than five authors. They have no abstract, are limited to a maximum of 500 words and should contain no more than two (if any) references. Additional material can be added as supplementary material online.

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.

Publication Fees
Upon acceptance of your manuscript, you will be charged a one-time Article Processing Charge (APC). This fee covers the cost of publication and ensures that your article will be open access. Once the APC has been processed, your article will be prepared for publication and can appear online within an average of 25 working days.

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.

Papers should only be submitted for consideration once the authorization of all contributing authors has been provided. Those submitting papers should carefully check that all those whose work contributed to the paper are acknowledged as contributing authors.

The list of authors should include all those who can legitimately claim authorship. This is all those who have:

  • Made a substantial contribution to the concept and design, acquisition of data or analysis and interpretation of data;
  • Drafted the article or revised it critically for important intellectual content; and
  • Approved the final version to be published.

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




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.

Submissions to JIEMS should be made via ScholarOne™ Manuscripts, a web based online submission and peer review system. Please read the Manuscript Submission guidelines below, and then simply access the ScholarOne™ platform through, or to login and submit your article online.

IMPORTANT: Please check whether you already have an account in the system before trying to create a new one. If you have reviewed or authored for the journal recently it is likely that you will have had an account created. For further guidance on submitting your manuscript online please visit ScholarOne™.

All papers must be submitted via the online system. If you would like to discuss any subject related to your paper prior to submission, please refer to the contact details below.

JIEMS only charges the APC after manuscript is accepted, with no charges for submission.

Contributor's Publishing Agreement
Before publication SciELO requires the author as the rights holder to sign a Journal Contributor's Publishing Agreement. JIEMS publishes manuscripts under Creative Commons licenses. The standard JIEMS license is Creative Commons by Attribution (CC-BY), which allows others to re-use the work without permission as long as the work is properly referenced. JIEMS owns the right to publish the manuscript, and authors retain ownership of the copyright for their article. They can allow anyone to download, reuse, reprint, modify, distribute, and/or copy articles published, as long as the original authors and source are cited. No permission is required from the authors or the publishers.

JIEMS and SciELO take issues of copyright infringement, plagiarism or other breaches of best practice in publication very seriously. JIEMS uses COPE guidelines ( 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.

Statements and Conventions
At the end of your article the following sections should apper: Acknowledgements, followed by your Declaration of Conflict of Interests, funding acknowledgment, references and for manuscripts with 5 or more authors each author must take responsibility for at least one component of the work (e.g.: Conception and design; Acquisition of data; Analysis and data interpretation; Technical procedures; Statistical analysis; Manuscript writing; Critical revision; Final approval).

All contributors who do not meet the criteria for authorship should be listed in an 'Acknowledgements' section. Examples of those who might be acknowledged include a person who provided purely technical help, writing assistance, or a department chair who provided only general support. Authors should disclose whether they had any writing assistance and identify the entity that paid for this assistance.

Declaration of conflict of interests
It is the policy of Journal of Inborn Errors of Metabolism and Screening to require a declaration of conflict of interests from all authors enabling a statement to be carried within the paginated pages of all published articles.

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'.

When disclosing any conflict of interest, the disclosure information must be specific and include any financial relationship that all authors of the article have with any sponsoring organization and the for-profit interests the organization represents, and with any for-profit product discussed or implied in the text of the article.

Any commercial or financial involvements that might represent an appearance of a conflict of interest need to be additionally disclosed in the covering letter accompanying your article to assist the Editor in evaluating whether sufficient disclosure has been made within the Declaration of Conflicting Interests provided in the article.

Funding acknowledgements
To comply with the guidance for research funders, authors and publishers issued by the Research Information Network (RIN), JIEMS additionally requires all authors to acknowledge their funding in a consistent fashion under a separate heading.

Where no specific funding has been provided for the research we ask that corresponding author uses the following sentence: "This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors."

Other statements

Research ethics
All papers reporting animal and human studies must include whether written consent was obtained from the local Ethics Committee or Institutional Review Board. Please ensure that you have provided the full name and institution of the review committee and an Ethics Committee reference number.
We accept manuscripts that report human and/or animal studies for publication only if it is made clear that investigations were carried out to a high ethical standard. Studies in humans which might be interpreted as experimental (e.g. controlled trials) should conform to the Declaration of Helsinki and typescripts must include a statement that the research protocol was approved by the appropriate ethics committee. In line with the Declaration of Helsinki 1975, revised Hong Kong 1989, we encourage authors to register their clinical trials (at or other suitable databases identified by the ICMJE, If your trial has been registered, please state this on the Title Page. When reporting experiments on animals, indicate on the Title Page which guideline/law on the care and use of laboratory animals was followed.

Patient consent
Authors are required to ensure the following guidelines are followed, as recommended by the International Committee of Medical Journal Editors, Uniform Requirements for Manuscripts Submitted to Biomedical Journals: Patients have a right to privacy that should not be infringed without informed consent.

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.

Identifying details should be omitted if they are not essential. Complete anonymity is difficult to achieve, however, an informed consent should be obtained if there is any doubt. For example, masking the eye region in photographs of patients is inadequate protection of anonymity. If identifying characteristics are altered to protect anonymity, such as in genetic pedigrees, authors should provide assurance that alterations do not distort scientific meaning and editors should so note. When informed consent has been obtained it should be indicated in the submitted article.

All randomized controlled trials submitted for publication should include a completed Consolidated Standards of Reporting Trials (CONSORT) flow chart. Please refer to the CONSORT statement website at for more information.

JIEMS has adopted the proposal from the International Committee of Medical Journal Editors (ICMJE) which requires, as a condition of consideration for publication of clinical trials, registration in a public trials registry. Trials must register at or before the onset of patient enrolment. The clinical trial registration number should be included at the end of the abstract of the article. For this purpose, a clinical trial is defined as any research project that prospectively assigns human subjects to intervention or comparison groups to study the cause-and-effect relationship between a medical intervention and a health outcome. Studies designed for other purposes, such as to study pharmacokinetics or major toxicity (e.g. phase I trials), would be exempt. Further information can be found at

Medical writers
If paid or unpaid medical writing services are used in the manuscript, this should be clearly informed in the Acknowledgements section. If medical writers meet criteria for authorship, they should be included in the author list.

Statistical analyses
Where statistical analyses have been carried out please ensure that the methodology has been accurately described. In comparative studies power calculations are usually required. In research papers requiring complex statistics the advice of an expert statistician should be sought at the design/implementation stage of the study.

Authors are responsible for obtaining permission from copyright holders for reproducing any illustrations, tables, figures or lengthy quotations previously published elsewhere. NB: If an author is using their own work they will still require permission if they did not retain copyright of the previously published work. Papers will not be accepted for publication without the correct permissions.

Manuscript preparation
The text should be double-spaced throughout and with a minimum of 3 cm inches for left and right hand margins and 5 cm inches at head and foot. Text should be standard 12 point.

The abstract should consist of no more than 200 words summarizing the contents of the article. Please do not subdivide, e.g. Background, Aim, Results, Conclusion, or similar. The abstract must stand alone, and it should be presumed that the reader has some knowledge of the subject but has not read the paper. At least 3 Keywords should be provided after the abstract.

Title Page
The title page should give the following information: (1) title of the article (in bold), as short and informative as possible, without any abbreviation; (2) one first name, initials (if applicable) and last name of each author; (3) name and address of the department or institution to which the work should be attributed; (4) name, telephone, fax number and e-mail address of the corresponding author and to whom the proofs should be sent.

Citations and References
JIEMS manuscripts must be prepared in accordance with the American Medical Association (AMA) style guidelines (10th edition). The authors are responsible for the accuracy of the references. Key the references (double-spaced) at the end of the manuscript. Cite the references in text in the order of appearance. Examples below.

Katz DL, Clinical Epidemiology & Evidence-Based Medicine: Fundamental Principles of Clinical Reasoning & Research, Thousand Oaks, CA: SAGE; 2001.

Schulz, J, HIV testing. In Kirton C, ed., ANAC's Core Curriculum for HIV/AIDS Nursing, 2nd ed. Thousand Oaks, CA: SAGE; 2003.

Baldo G, Mayer FQ, Martinelli BZ, et al. Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. Mol Genet Metab. 2013; 109(1): 33-40.

English language

The text must be in English language. If the authors' native language is not English, we strongly encourage review and editing by a colleague whose native language is English or the use of an English language editing service.

Editorial peer-review and processing

Manuscripts submitted by authors to the JIEMS will be initially evaluated by the Editor-in-Chief, regarding the scope and standards and by the Assistant Technical Editors regarding formatting and technical requirements.

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.

Guidelines for submitting artwork, figures and other graphics

Figures: Figures must be submitted as separate files. Formats for figures are TIFF or JPEG. They must be numbered consecutively using Arabic numerals. Figures in Word, PowerPoint or Excel format cannot be published. Only nucleic acid sequence data can be presented in Word format.

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.
Please note that artwork generated from office suite programs such as CorelDRAW and MS Word and artwork downloaded from the Internet (JPEG or GIF files) cannot be used. Cite the figures and number them in the order in which they are discussed in the text of the manuscript.

Figure Legends: Legends must be submitted for all figures. They should be brief and specific, and they should appear on a separate manuscript page place to follow the references. Use scale markers in the image for electron micrographs and indicate the type of stain used.

Tables: Create tables using the table creating and editing feature of your word processing software (e.g., MS Word or Excel). Group all tables at the end of the manuscript, or supply them together in a separate file. Cite tables consecutively in the text, and number them in that order. Key each on a separate sheet, and include the table title, appropriate column heads, and explanatory legends (including definitions of any abbreviations used). Do not embed tables within the body of the manuscript. They should be self-explanatory and should supplement, rather than duplicate, the material in the text.

After Acceptance

We will email a PDF of the proofs to the corresponding author. Any accompanying queries should be answered as soon as possible (typically in 48 hours) so that publication is not delayed.

The PDF of your article will be available for download on the journal website after publication.

JIEMS does not use preprints, but previous publications of results in this format does not exclude the possibility of full publications in our journal.

Further Information
Any correspondence, queries or additional requests for information should be sent to the following e-mail:



The JIEMS is exclusively published online, with open access, for those with gold membership, and free of charge.
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) Rua Ramiro Barcelos, 2350, CEP: 90035-903, Porto Alegre, RS - Brasil, Tel.: 55-51-3359-6338, Fax: 55-51-3359-8010 - Porto Alegre - RS - Brazil