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MOLECULAR GENETICS AND METABOLISM
Is the official journal of the Society for Inherited Metabolic Disorders


!!! Important information for NIH authors !!!


Sponsored Articles
Molecular Genetics and Metabolism offers authors the option to sponsor non-subscriber access to their articles on Elsevier's electronic publishing platforms. For more information please view our Sponsored Articles page.

Guide for Authors

Sponsored Articles:
Molecular Genetics and Metabolism offers authors the option to sponsor non-subscriber access to their articles on Elsevier's electronic publishing platforms. For more information please view our Sponsored Articles page.

Molecular Genetics and Metabolism considers original research articles in the areas of molecular genetics, biochemical genetics, and endocrinology and metabolism. The scope of the journal includes the application of biochemistry and molecular genetics in fundamental studies of the pathogenesis, diagnosis, and management of diseases with an inherited or acquired abnormality in the function of a gene product. Research into the relationships between the structure and the function of genes and proteins and between genotypes and phenotypes will be published. Methodologies will include both in vitro and in vivo studies of isolated components of cells, whole cells, or intact organisms. Diseases of interest may be due to single or complex gene defects, Mendelian or non-Mendelian inheritance, germ-line or somatic cell abnormalities, or acquired processes. Investigations of human disease and studies of other eukaryotic or prokaryotic organisms to improve knowledge of human disease will be considered. Therapeutic strategies of interest to the journal will include new molecules and new molecular targeting and/or gene therapy for inherited, infectious, and oncologic disorders, as well as drug treatment, dietary intervention, transplantation and/or stem cell therapy. Case reports will not be published, but the editors will consider biochemical and/or molecular genetic investigations involving a single patient with a rare disorder that improve the understanding of the disorder. The scope of the journal includes biochemical, cell biological, molecular genetic and structural biological studies of enzyme and other protein deficiencies, and fundamental investigations of the pathogenesis of inherited and acquired disorders. In addition to basic investigations, practical advances in the biochemical and molecular diagnoses of human diseases will be considered valuable contributions.

Submission of Manuscripts

It is a condition of publication that all manuscripts must be written in clear and grammatical English and be submitted to the Molecular Genetics and Metabolism Web site at http://ees.elsevier.com/mgm. Minimal exceptions will be allowed. Authors who are unable to provide an electronic version should contact the Editorial Office prior to submission (e-mail: mgm@elsevier.com; telephone: (619) 699-6746 ; or fax: (619) 699-6859).

Manuscripts are accepted for review with the understanding that the same work has not been published, that it is not currently under consideration elsewhere, and that its submission for publication has been approved by all of the authors and by the institution where the work was carried out; further, that any person cited as a source of personal communications has approved such citation. Please include the individual's full name, name of their institution or company, city, and state or country. Written authorization may be required at the Editor's discretion. Articles and any other material published in Molecular Genetics and Metabolism represent the opinions of the author(s) and should not be construed to reflect the opinions of the Editor(s) and the Publisher.

Upon acceptance of an article, authors will be asked to transfer copyright (for more information on copyright, see http://authors.elsevier.com). This transfer will ensure the widest possible dissemination of information. A letter will be sent to the corresponding author confirming receipt of the manuscript. A form facilitating transfer of copyright will be provided after acceptance.

If material from other copyrighted works is included, the author(s) must obtain written permission from the copyright owners and credit the source(s) in the article. Elsevier has preprinted forms for use by authors in these cases: contact Elsevier Global Rights Department, P.O. Box 800, Oxford OX5 1DX, UK; phone: (+44) 1865 843830, fax: (+44) 1865 853333, e-mail: permissions@elsevier.com.

US National Institutes of Health (NIH) voluntary posting ("Public Access") policy.
Elsevier facilitates author response to the NIH voluntary posting request (referred to as the NIH "Public Access Policy"; see http://www.nih.gov/about/publicaccess/index.htm) by posting the peer-reviewed author?s manuscript directly to PubMed Central on request from the author, 12 months after formal publication. Upon notification from Elsevier of acceptance, we will ask you to confirm via e-mail (by e-mailing us at NIHauthorrequest@elsevier.com) that your work has received NIH funding and that you intend to respond to the NIH policy request, along with your NIH award number to facilitate processing. Upon such confirmation, Elsevier will submit to PubMed Central on your behalf a version of your manuscript that will include peer-review comments, for posting 12 months after formal publication. This will ensure that you will have responded fully to the NIH request policy. There will be no need for you to post your manuscript directly with PubMed Central, and any such posting is prohibited.

Consideration for Publication
Original articles will be considered on the basis of the originality and quality of the work, the clarity of the presentation, and the relevance of the research to the goal of the journal. At the discretion of the Editor, an original article may be accompanied by a Commentary by a member of the Editorial Board or another contributor.

Minireviews will describe timely advances within the scope of the journal, emphasizing emerging topical areas and/or critically analyzing existing data. Contributors should communicate with the Editor before preparing or submitting a review in order to determine if the topic and intent are considered appropriate. At the discretion of the Editor, reviews may be accompanied by comment from one of the Editors or another contributor. Minireviews may be any length and may include any number of references. Figures and tables may be included.

Brief Communications will be considered for publication with an expedited review. These short manuscripts should be no more than 5 manuscript pages (approximately 1000 words) in length with a limit of one figure or table. Standard section headings should be utilized and the abstract should be limited to a few sentences (75 words or less).

Letters to the Editor will be considered for rapid publication if they lie within the purview of the journal and if they contain new information, comment on published work, or new theoretical suggestions. These should be brief (300 words or less) and without subject headings. One table or figure will be allowed.

Submitted manuscripts claiming to be a demonstration of a new mutation will be rejected and returned to authors without review unless the authors present results of a search for the new mutation in at least 100 chromosomes from unaffected individuals of the same ethnic background as the patient(s) with the new mutation.

Authors should perform a power calculation to determine how many subjects they need to study in order to find a significant association between a sequence variation and a disorder. The results of the power calculation should be included in the methods section of the manuscript. Submitted manuscripts without a power calculation will be rejected and returned to authors without review.

Authors attempting to demonstrate genotype/phenotype correlation should review the literature below to help them interpret their results:

R. Dorfman, A. Sandford et al., Complex two-gene modulation of lung disease severity in children with cystic fibrosis, J. Clin. Invest. 118 (2008) 1040-1049, External link http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2248329.

K.M. Dipple, E.R.B. McCabe, Modifier genes convert "simple" Mendelian disorders to complex traits, Mol. Genet. Metab. 71 (2000) 43-50.

K.M. Dipple, E.R.B. McCabe, Phenotypes of patients with "simple" Mendelian disorders are complex traits: Threshholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66 (2000) 1729-1735.

K.M. Dipple, J.K. Phelan, E.R.B. McCabe, Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease. Mol. Genet. Metab. 74 (2001) 45-50.

C.R. Scriver, P.J. Waters, Monogenic traits are not simple: Lessons learned from phenylketonuria. Trends Genet. 15 (1999) 267-272.

J. Vockley, P. Rinaldo, M.J. Bennett, G.D. Vladutiu, Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet. Metab. 71 (2000) 10-18.

Preparation of Manuscripts

Manuscripts should be double-spaced throughout. Pages should be numbered consecutively and organized as follows:

The Title Page (p. 1) should contain the article title, authors? names and complete affiliations, footnotes to the title, and the address for manuscript correspondence (including e-mail address and telephone and fax numbers).

The Abstract (p. 2) must be a single paragraph that summarizes the main findings of the paper in less than 250 words. After the abstract a list of up to 10 keywords that will be useful for indexing or searching should be included.

The Introduction should be as concise as possible, without subheadings.

Materials and methods should be sufficiently detailed to enable the experiments to be reproduced. Please include the name of the supply or piece of equipment, the company, city, and state or country.

Results and Discussion may be combined and may be organized into subheadings.

Acknowledgments should be brief and should precede the references.

References should be cited in the text by Arabic numerals in square brackets, e.g., [4], and listed at the end of the manuscript in consecutive order. The names of all authors should be included in the references. Abbreviate journal titles according to Index Medicus. Only articles that have been published or are in press should be included in the references. Unpublished results or personal communications should be cited as such in the text. Please note the following examples.

[1] C.R. Scriver, E. Treacy, Is there treatment for "genetic" disease? Mol. Genet. Metab. 68 (1999) 93-102.

[2] R. Hesketh, The Oncogene Facts Book, Academic Press, London, 1995.

[3] T. Shenk, Group C adenoviruses as vectors for gene therapy, in: M.G. Kaplitt, A.S. Loew (Eds.), Viral Vectors, Academic Press, San Diego, 1995, pp. 43-54.

Figures. Number figures consecutively with Arabic numerals. Please visit our Web site at http://authors.elsevier.com/artwork for detailed instructions on preparing electronic artwork.

If together with your accepted article you submit usable color figures, then Elsevier will ensure, at no additional charge, that these figures will appear in color on the Web (e.g., ScienceDirect and other sites) regardless of whether these illustrations are reproduced in color in the printed version.

Please note: Because of technical complications that can arise in converting color figures to "gray scale" (for the printed version should you not opt for color in print), please submit in addition usable black-and-white files corresponding to all the color illustrations.

Authors can suggest figures to the Editor for use as the cover figure for an issue. Cover figures should be in color and include data or a schematic model. There will be no charge to the authors for printing the color figure on the journal cover.

Tables should be numbered consecutively with Arabic numerals in order of appearance in the text. Type each table double-spaced on a separate page with a short descriptive title typed directly above and with essential footnotes below.

Nomenclature
Whenever enzymes are the subject of reporting, the Enzyme Commission (EC) number should be used for accurate identification and retrieval purposes. The Internet address for the Enzyme Commission is http://www.bis.med.jhmi.edu/bio/search/FILT/enzyme.html.

DNA sequences and GenBank accession numbers. Whenever nucleic acid and/or protein sequence information is presented, an accession number from EMBL/GenBank or NBRF should be submitted. Authors wishing to enable other scientists to use the accession numbers cited in their papers via links to these sources, should type this information in the following manner: For each and every accession number cited in an article, authors should type the accession number in bold, underlined text. Letters in the accession number should always be capitalized (see example below). This combination of letters and format will enable the typesetter to recognize the relevant texts as accession numbers and add the required link to the GenBank sequences.

Example: GenBank accession nos. AI631510 , AI631511 , AI632198 , and BF223228 ), a B-cell tumor from a chronic lymphatic leukemia (GenBank accession no. BE675048 ), and a T-cell lymphoma (GenBank accession no. AA361117 ).

Authors are encouraged to check accession numbers used very carefully. An error in a letter or number can result in a dead link.

In the final version of the printed article, the accession number text will not appear bold or underlined. In the final version of the electronic copy, the accession number text will be linked to the appropriate source in the NCBI databases, enabling readers to go directly to that source from the article.

Human gene mutations should be named in accord with the recommendations of the Nomenclature Working Group (Antonarakis et al., Hum. Mutat. 11 (1998) 1-3; den Dunnen and Antonarakis, Hum. Mutat. 15 (2000) 7-12).

Preparation of Supplementary Material

Elsevier now accepts electronic supplementary material to support and enhance your scientific research. Supplementary files offer additional possibilities for publishing supporting applications, movies, animation sequences, high-resolution images, background datasets, sound clips, and more. Supplementary files supplied will be published online alongside the electronic version of your article in Elsevier Web products, including ScienceDirect (http://www.sciencedirect.com). To ensure that your submitted material is directly usable, please provide the data in one of our recommended file formats. Authors should submit the material in electronic format together with the article and supply a concise and descriptive caption for each file. Please note, however, that supplementary material will not appear in the printed journal. Files can be stored on 3?-inch diskette, ZIP disk, or CD (either MS-DOS or Macintosh). For more detailed instructions, please contact the Editorial Office (e-mail: mgm@elsevier.com; telephone: (619) 699-6538; or fax: (619) 699-6700).

Proofs

PDF proofs will be e-mailed to the corresponding author. To avoid delay in publication, only necessary changes should be made, and proofs should be returned promptly. Authors will be charged for alterations that exceed 10% of the total cost of composition.

Author Inquiries

For inquiries relating to the submission of articles (including electronic submission where available) please visit External link http://authors.elsevier.com. This website also provides the facility to track accepted articles and set up e-mail alerts to inform you of when an article's status has changed, as well as detailed artwork guidelines, copyright information, frequently asked questions, and more. Contact details for questions arising after acceptance of an article, especially those relating to proofs, are provided after registration of an article for publication.
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