期刊名称：JOURNAL OF INHERITED METABOLIC DISEASE
 期刊简介(About the journal)
投稿须知(Instructions to Authors)
编辑部信息(Editorial Board)
About the journal
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| Journal of Inherited Metabolic Disease |
| Official Journal of the Society for the Study of Inborn Errors of Metabolism |
Journal of Inherited Metabolic Disease is the journal of the Society for the Study of Inborn Errors of Metabolism and is truly international and multidisciplinary in scope. It publishes original work, in the form of papers, short reports and case reports, covering all aspects of inherited metabolic disorderss in man and higher animals: clinical, biochemical, genetic, experimental, epidemiological and ethical. Reviews and short communications arising from the Society's annual symposium provide a comprehensive overview of the major growing-points in the subject. |
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Instructions to Authors
The Journal of Inherited Metabolic Disease is the official scientific and clinical journal of the Society for the Study of Inborn Errors of Metabolism. The aim of this international and multidisciplinary journal is to provide otherwise unavailable information on inherited metabolic disorders covering clinical (medical, dental and veterinary), biochemical (including molecular genetics), genetic, experimental (including cell biology), theoretical, epidemiological, ethical and counselling aspects. Widespread and efficient communication between professional workers should improve the handling and understanding of inherited disorders.
The journal publishes papers, case and short reports, short communications based on work presented at the annual symposium of the SSIEM, letters, invited articles which are generally reviews, and book reviews, Papers for submission and correspondence should be written in English and sent to:
The Editor-in-Chief
Journal of Inherited Metabolic Disease
Kluwer Academic Publishers
PO Box 55
Lancaster, LA1 1PE
United Kingdom
Acceptance of articles for publication is at the discretion of the editors. Authors are advised to consult a current issue of the journal before submission. It is a condition of acceptance that articles have not been and will not be published elsewhere in substantially the same form. The submitting author must have circulated the article to and have secured agreement from all co-authors before submission of the article. The absence of previous similar or simultaneous publications, their inspection of the manuscript, their substantial contribution to the work and their agreement to submission must be confirmed by all authors in a signed letter or letters on submission. It should be noted that the conditions are later confirmed by the corresponding author in a copyright transfer form when the paper is accepted. Detailed Instructions to Authors are published in issue no. 1 of each volume of the journal, and in other issues as space permits, and are listed in the Contents.
Ethical Considerations
The editors reserve the right to reject for publication work which, even though scientifically sound, they consider should not have been undertaken on ethical grounds. Where there is a difference of opinion, authors may be asked to explain in their publication why the work was undertaken. There are no absolute ethical standards, and studies on children present special problems. In this last respect the editors agree with the policy stated by the Archives of Disease in Childhood 42 (1967) 109; 48 (1973) 751-752; 54 (1978) 441-442. The purely legal aspect of studies in children are discussed in Lancet 2 (1977) 754-755; Archives of Disease in Childhood 53 (1978) 443-446.
Books for Review should be sent to the Editor-in-Chief at the above address.
Manuscripts
Submitted papers should be typed on one side of the paper only, with ample margins and at least 7 mm of clear space between each line. A top copy and two duplicates should be submitted. On the first page should be written the title of the paper, authors?names and institutional affiliations set out as in a current issue of the Journal, and the name and full postal address, including postal (ZIP) code, of the author who will be dealing with correspondence and proofs. List up to three suitable entries for the subject index. If the title is long provide an abbreviated title for the running head (except for Case Reports, and Short Reports). Start the rest of the paper on a new page. For full papers and reviews a summary of not more than 300 words is required. At the time of first mention (other than in the summary), enzymes should be accompanied by an Enzyme Commission number and inherited diseases by the catalogue number in the latest edition of McKusick, V. "Mendelian Inheritance in Man", Johnn Hopkins, Baltimore. Previously published material should be acknowledged, and written permission from copyright holders obtained to reproduce figures, tables or substantial sections of text.
Illustrations
Diagrams and photographs should be supplied as high quality prints ready for reproduction. They should be 1.5 to 2 times their final reproduced size and so lettering and thickness of the line should allow for this. The final height of printed lettering should be 2 mm. Micrographs should include a statement of magnification either on the print or in the figure legend. All illustrations should be clearly identified in pencil on the back of each print and marked with an arrow to show correct orientation. Figure legends should be typed on a separate page.
Units, symbols
Authors are encouraged to use SI units and IUPAC-IUB nomenclature and to avoid non-standard abbreviations. Authors may be helped with matters of nomenclature by Biochemical Nomenclature (1992) London: Portland Press.
References
Consult a current issue of the journal. Citations in the text should use authors?names then the date, e.g.: (Smith and Smith 1977); for 3 or more authors use et al, e.g. (Jones et al 1989). The full references are listed in alphabetical order at the end of the paper. Journal abbreviations follow "Index Medicus" or "Chemical Abstracts". Examples are:
Journals: Smith AL, SMith JD (1977) Hybridisation methods. Nucl Acids Res 8: 1095-1098.
Chapter in an edited book: Weinstein L, Swartz MN (1974) Pathologic mechanisms of invading microorganisms. In Sodeman WA Jr, Sodeman WA, eds. Pathogenic Physiology: Mechanisms of Disease. Philadelphia: WB Saunders, 457-472.
Where there are 7 or more authors give the first 3 plus et al in the list of references. Both in the text and list use et al without punctuation or italicization. Authors are listed without ’and?
Although this Journal does not use the precise Vancouver reference convention, there is useful guidance on the general style acceptable in submission and on rarely used types of references from ’Uniform requirements for manuscripts submitted to biomedical journals (1991) Br Med J 302: 338-341.
Case Reports
In order to accumulate experience after the first few have been described, we invite reports of ’typical?cases of ’rare?conditions. Case reports of common conditions, where more than 50 cases have been described, will not be considered unless they highlight some unusual or previously unrecorded feature. Chnace associations of two conditions or sporadic cases from new geographical locations (as opposed to systematic epidemiological studies) are not in themselves of suffiecient value to justify publication. Aim at 400 words, with 600 as an absolute maximum, including title, address and references. Authors should include only three references and a McKusick number which provides a key to the relevant literature. Results should not be tabulated but included in the text. Figures are not permitted. The editors will consult referees if in doubt over any aspect of a report and will exercise the final control over acceptance and content.
Short Reports
These follow the same general format, and are accepted under the same conditions, as Case Reports. Short reports offer a suitable vehicle for laboratory or other observations which are complete in themselves but do not warrant presentation as a full paper. Short reports should not be used as a form of preliminary communication.
Short Communications
Authors of free communications (oral or poster) presented at the annual meeting of the Society for the Study of Inborn Errors of Metabolism have the option of submitting their work for publication as a Short Communication in the Journal. Some Short Communications act as a preliminary report of important new developments, others describe completed work which will not be reported elsewhere. Instructions for preparation of manuscripts are sent out by the meeting organizers on acceptance of free communications. Selection for publication is by a committee.
Repetitive Publication
It is a condition of acceptance that all articles have not been and will not be published elsewhere in substantially the same form. The submitting author must have circulated the article to and have secured agreement from all co-authors before submission of the article. The absence of previous similar or simultaneous publications, their inspection of the manuscript, their substantial contribution to the work, as defined by the International Committee of Medical Journal Editors, and their agreement to submission must be confirmed by all authors with their signatures in a signed letter or letters on submission. It should be noted that these conditions are later confirmed by the corresponding author in a copyright transfer form when the paper is accepted. The publication elsewhere, at around the same time, of a similar article perhaps differing only in some of the results, especially if the J Inher Metab Dis article is not cross-referenced, may justify formal retraction at a later data.
Proofs
Proofs will be sent to the corresponding author by e-mail (if no e-mail address is available or appears to be out of order, proofs will be sent by regular mail).
Your response, with or without corrections, should be sent within 72 hours. Please do not make any corrections to the PDF file.
Minor corrections (+/- 10) should be sent as an e-mail attachment to: proofscorrection@wkap.nl. Always quote the four-letter journal code and article number and the PIPS No. from your proof in the subject field of your e-mail.
Extensive corrections must be clearly marked on a printout of the PDF file and should be sent by first-class mail (airmail overseas).
Offprints
Twenty-five offprints of each article will be provided free of charge. Additional offprints (both hard copies and PDF files) can be ordered by means of an offprint order form supplied with the proofs.
General
No page charges are levied on authors or their institutions.
Advertisements: As well as commercial advertisements, announcements of forthcoming scientific meetings and other material relevant to the journal can be included, at rates available from the publishers. All advertising is subject to the discretion of the editors.
Consent to publish in this journal entails the author‘s irrevocable and exclusive authorisation of the publisher to collect on behalf of the copyright owners, SSIEM and the publishers, any sums or considerations for copying or reproduction payable by third parties (as mentioned in article 17, paragraph 2, of the Dutch Copyright Act of 1912 and in the Royal Decree of June 20, 1974 (S. 351) pursuant to article 16b of the Dutch Copyright Act of 1912) and/or to act in or out of court in connection herewith
Editorial Board
Editor-in-Chief:
G.T.N. Besley
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK
Editor:
R.J. Pollitt
Children's Hospital, Sheffield, UK
Garry Brown
Genetics Laboratory, Dept. of Biochemistry, Oxford, UK
G.F. Hoffmann
Universitätskinderklinik u. Poliklinik, Heidelberg, Germany
K.M. Gibson
Biochemical Genetics Laboratory, Oregon Health Sciences University, Portland, USA
Book Review Editor:
G.M. Addison
Dept. of Chemical Pathology, Royal Manchester Children's Hospital, UK
Honorary Consultant Editor: R.A. Harkness, Edinburgh, UK
Editorial Board:
N. Buist, Portland; Maria B. Cabalska, Warsaw; John Cristodoulou, Parramatta; J.M. Connor, Glasgow; R.J. Desnick, New York; W. Endres, Innsbruck; K.M. Gibson, Portland; F. Güttler, Glostrup; E.H. Harley, Cape Town; J.-M. Saudubray, Paris; C. Scriver, Montreal; O. Simell, Turku; K. Tada, Sendai; M. Wajner, Porto Alegre
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