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Journal of Inborn Errors of Metabolism and Screening
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Journal of Inborn Errors of Metabolism and Screening


Editor-in-Chief
Roberto Giugliani Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil


eISSN: 23264594 | ISSN: 23264098 | Current volume: 4 | Current issue: 1

The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. Original research articles published in JIEMS range from basic findings that have implications for disease pathogenesis and therapy, passing through diagnosis and screening of metabolic diseases and genetic conditions, and therapy development and outcomes as well. Original articles, reviews on specific topics, brief communications and case reports are welcome.

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.

Open Access FAQs

This journal is a member of the Committee on Publication Ethics (COPE)

An introductory Article Processing Charge (APC) of $498 ($400 for SLEIMPN members), discounted from the full rate of $995 ($800 for SLEIMPN members), is available for a limited time. The APC is payable upon acceptance of the manuscript.

Please direct any enquires to rgiugliani@hcpa.ufrgs.br or guibaldo@ig.com.br.

The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. Original research articles published in JIEMS range from basic findings that have implications for disease pathogenesis and therapy, passing through diagnosis and screening of metabolic diseases and genetic conditions, and therapy development and outcomes as well. Original articles, reviews on specific topics, brief communications and case reports are welcome.

 

Editor-in-Chief
Roberto Giugliani, MD, PhD Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Managing Editor
Ursula Matte, PhD Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Assistant Technical Editors
Guilherme Baldo, PhD Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Mariluce Riegel Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
Filippo Vairo, MD Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Associate Editors
Luis A. Barrera Pontificia Universidad Javeriana, Bogotá, Columbia
Verónica Cornejo Universidad de Chile, Santiago, Chile
Moacir Wajner Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Editorial Board
José Abdenur Children's Hospital of Orange County, Orange, California, USA
Hernan Amartino Hospital Universitario Austral, Buenos Aires, Argentina
Michael Beck University of Mainz, Mainz, Germany
Brian Bigger University of Manchester, Manchaster, UK
Juan F. Cabello Universidad de Chile, Santiago, Chile
José S. Camelo Jr. Universidade de Sao Paulo, Ribeirao Preto, Brazil
Victor de Jesus Centers for Disease Control and Prevention, Atlanta, GA, USA
Terry Derks Beatrix Children's Hospital, University Medical Center Groningen, Groningen, Netherlands
Gloria Duran Pontifical Catholic University, Santiago, Chile
Greg Enns Lucile Packard Children's Hospital Stanford, Palo Alto, California, USA
Isabel Ibarra-González Universidad Nacional Autonoma de Mexico, Mexico City, Mexico
Laura Laróvere Universidad Nacional de Cordoba, Cordoba, Argentina
Alexandra Latini Universidade Federal de Santa Catarina, Florianopolis, Brazil
Gerard Loeber International Society for Neonatal Screening, Utrecht, Netherlands
Adriana Montaño Saint Louis University, St. Louis, Missouri, USA
Carmencita Padilla University of the Philippines, Manila, The Philippines
Gregory Pastores Yale University School of Medicine, New Haven, Connecticut USA
Pilar Peredo Universidad de Chile, Santiago, Chile
Juan Politei Independent Researcher, Buenos Aires, Argentina
Kathy Ponder Washington University in Saint Louis, St. Louis, Missouri, USA
Graciela Queiruga Independent Researcher, Montevideo, Uruguay
Paula Rozenfeld National University of La Plata, Buenos Aires, Argentina
Andrea Schenone Fundacion para el Estudio de las Enfermedades Neurometabolicas, Buenos Aires, Argentina
Marcela Vela-Amieva Instituto Nacional de Pediatria, Mexico City, Mexico
Ronald Wanders Academic Medical Center, Amsterdam, Netherlands
Dianne Webster LabPlus, Auckland, New Zealand
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  • This Journal is a member of the Committee on Publication Ethics

    Please read the guidelines below then visit the Journal’s submission site [(https://mc.manuscriptcentral.com/iem) to upload your manuscript. Please note that manuscripts not conforming to these guidelines may be returned.

    Only manuscripts of sufficient quality that meet the aims and scope of Journal of Inborn Errors of Metabolism and Screening will be reviewed.

    As part of the submission process you will be required to warrant that you are submitting your original work, that you have the rights in the work, that you are submitting the work for first publication in the Journal and that it is not being considered for publication elsewhere and has not already been published elsewhere, and that you have obtained and can supply all necessary permissions for the reproduction of any copyright works not owned by you.

    The Journal of Inborn Errors of Metabolism and Screening (IEM) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. It is the official journal of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN).

    1. Open Access

    The Journal of Inborn Errors of Metabolism and Screening 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 the Journal of Inborn Errors of Metabolism and Screening.

    For general information on Open Access at SAGE, please visit this page.

    2. Peer Review Policy

    The journal’s policy is that manuscripts are reviewed by at least two expert reviewers. The Journal of Inborn Errors of Metabolism and Screening 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 and recommendations to the Editor-in-Chief who then makes his final decision.

    3. Article Types

    The journal will consider original articles, reviews on specific topics, short reports and clinical cases for publication.

    Original Articles should comprise an Introduction, Aim, Methods, Results, Conclusion, Acknowledgements and References or similar.

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

    Short Reports & Clinical Cases should not exceed 2,500 words (excluding references). The word count (which includes all text including the abstract, manuscript, notes, tables, figures, etc) should appear on the title page.

    4. 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 freely available. 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 introductory Article Processing Charge (APC) of $498 ($400 for SLEIMPN members), discounted from the full rate of $995 ($800 for SLEIMPN members) is available for a limited time.

    5. Authorship

    Papers should only be submitted for consideration once the authorization of all contributing authors has been gathered. 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:

    1. made a substantial contribution to the concept and design, acquisition of data or analysis and interpretation of data;
    2. drafted the article or revised it critically for important intellectual content; and
    3. approved the 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 http://www.icmje.org/icmje-recommendations.pdf.

    6. How to Submit Your Manuscript

    Before submitting your manuscript, please ensure you carefully read and adhere to all the guidelines and instructions to authors provided below. Manuscripts not conforming to these guidelines may be returned.

    Manuscripts submitted to the Journal of Inborn Errors of Metabolism and Screening (IEM) may not be under consideration for publication at any other journal at the time of submission and, following submission to IEM, may not be submitted for publication to ANY other source pending official, written notification of the final decision by IEM. Submission to IEM indicates that this is your primary choice for publication and IEM retains sole publication rights until a final publication decision is made.

    Submissions to the Journal of Inborn Errors of Metabolism and Screening 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 visit http://mc.manuscriptcentral.com/iem 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 Online Help.

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

    7. Contributor's Publishing Agreement

    Before publication SAGE requires the author as the rights holder to sign a Journal Contributor’s Publishing Agreement. The Journal of Inborn Errors of Metabolism and Screening publishes manuscripts under Creative Commons licenses. The standard Journal of Inborn Errors of Metabolism and Screening 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. For more information, you are advised to visit SAGE's OA licenses page. Alternative license arrangements are available, for example, to meet particular funder mandates, made at the author’s request.

    The Journal of Inborn Errors of Metabolism and Screening and SAGE take issues of copyright infringement, plagiarism or other breaches of best practice in publication very seriously. 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; banning the author from publication in the journal or all SAGE journals, or appropriate legal action.

    8. Statements and Conventions

    At the end of your article Acknowledgements should appear first, followed by your Declaration of Conflicting Interests, funding acknowledgment, any notes and then your references.

    8.1 Acknowledgements

    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.

    8.2 Declaration of conflicting interests

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

    Please include any declaration at the end of your manuscript after any acknowledgements and prior to the references, under a heading ‘Declaration of Conflicting 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 making a declaration, the disclosure information must be specific and include any financial relationship that all authors of the article has 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.

    For more information please visit the SAGE Journal Author Gateway.

    8.3 Funding acknowledgements

    To comply with the guidance for research funders, authors and publishers issued by the Research Information Network (RIN), Journal of Inborn Errors of Metabolism and Screening additionally requires all authors to acknowledge their funding in a consistent fashion under a separate heading. Please visit Funding Acknowledgement on the SAGE Journal Author Gateway for funding acknowledgement guidelines.

    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.”

    8.4 Other statements

    8.4.1 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 http://www.wma.net/en/30publications/10policies/b3/index.html and typescripts must include a statement that the research protocol was approved by the appropriate ethical committee. In line with the Declaration of Helsinki 1975, revised Hong Kong 1989, we encourage authors to register their clinical trials (at http://clinicaltrials.gov or other suitable databases identified by the ICMJE, http://www.icmje.org/about-icmje/faqs/clinical-trials-registration/). 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.

    8.4.2 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: http://www.icmje.org/about-icmje/faqs/icmje-recommendations/. 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, and 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.

    8.4.3 CONSORT & ICMJE

    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 http://www.consort-statement.orgfor more information.

    The Journal of Inborn Errors of Metabolism and Screening 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 www.icmje.org.

    8.4.4 Medical writers (‘ghost writers’)

    Manuscripts submitted for publication must list all authors, including the person who drafted the original manuscript. This includes paid or unpaid medical writers (‘ghost writers’).
    If medical writers are to be involved in the preparation of manuscripts then they must co-author with a clinician (or other medical professional) and their name and full affiliation must appear on the article.
    The work of any medical writer must not be passed off as that of a clinician or other medical professional.

    8.4.5 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.

    9. Permissions

    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 article. Papers will not be accepted for publication without the correct permissions. For further information including guidance on fair dealing for criticism and review, please visit our Frequently Asked Questions on the SAGE Journal Author Gateway.

    10. Manuscript preparation

    The text should be double-spaced throughout and with a minimum of 1.18 inches for left and right hand margins and 2 inches at head and foot. Text should be standard 12 point.

    10.1 Title, keywords and abstracts: helping readers find your article online

    The title, keywords and abstract are key to ensuring readers find your article online through online search engines such as Google. Please refer to the information and guidance on how best to title your article, write abstract and select your keywords by visiting SAGE’s Journal Author Gateway Guidelines on How to Help Readers Find Your Article Online

    The abstract should consist of no more than 150 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.

    10.2 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) address of the department or institution to which the work should be attributed; (4) name, telephone, fax number and email address of the author responsible for correspondence and to whom the proofs should be sent.

    10.3 Citations and References

    Journal of Inborn Errors of Metabolism and Screening 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.

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

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

    Journal:
    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.

    10.4 Guidelines for submitting artwork, figures and other graphics

    For guidance on the preparation of illustrations, pictures and graphs in electronic format, please visit SAGE’s Manuscript Submission Guidelines.

    Figures will ideally be submitted within the main text of the document, failing this they should be submitted separately and be clearly labeled. Art should be created/scanned and saved and submitted as in either of the below formats:

    • TIFF (tagged image file format)
    • EPS (encapsulated PostScript)
    • PPT (PowerPoint)

    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 and 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.

    10.5 English language editing services

    Authors who would like to refine the use of English in their manuscripts might consider using the services of a professional English-language editing company. We highlight some of these companies at http://www.sagepub.com/journalgateway/engLang.htm.

    Please be aware that SAGE has no affiliation with these companies and makes no endorsement of them. An author's use of these services in no way guarantees that his or her submission will ultimately be accepted. Any arrangement an author enters into will be exclusively between the author and the particular company, and any costs incurred are the sole responsibility of the author.

    11. After Acceptance

    11.1 Proofs

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

    11.2 E-Prints

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

    12. Further Information

    Any correspondence, queries or additional requests for information should be sent to the following:

    Editor-in-Chief: Roberto Giugliani, rgiugliani@hcpa.ufrgs.br 
    Assistant Editor: Guilherme (Gui) Baldo, guibaldo@ig.com.br