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Medicine - Internal Medicine | Journal of Inherited Metabolic Disease - incl. option to publish open access (Editorial Board)

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Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease

Official Journal of the Society for the Study of Inborn Errors of Metabolism

Editor-in-Chief: Eva Morava-Kozicz

ISSN: 0141-8955 (print version)
ISSN: 1573-2665 (electronic version)

Journal no. 10545

Eva Morava, Mayo Clinics, USA, and Leuven, Belgium

Matthias Baumgartner, Zürich, Switzerland
Marc Patterson, Rochester, MN, USA
Shamima Rahman, London, UK
Johannes Zschocke, Innsbruck, Austria

Managing Editor
Verena Peters, Heidelberg, Germany

Communicating Editors
Avihu Boneh, Melbourne, Victoria, Australia
Olaf Bodamer, Boston, MA, USA
Gerard Berry, Boston, MA, USA
Peter Burgard, Heidelberg, Germany
Brian Fowler, Basel, Switzerland
Roberto Giugliani, Porto Alegre, Brazil
Johannes Haeberle, Zurich, Switzerland
Georg Hoffman, Heidelberg, Germany
Carla Hollak, Amsterdam, The Netherlands
Sander Houten, Amsterdam, The Netherlands
Robin Lachmann, London, UK
Jaak Jaeken, Leuven, Belgium
Ina Knerr, Dublin, Ireland
Greg Pastores, Dublin, Ireland
Uma Ramaswami, London, UK
Markus Ries, Heidelberg, Germany
Piero Rinaldo, Rochester, MN, USA
Manuel Schiff, Paris, France
Ashok Vellodi, London, UK
Bridget Wilcken, Westmead, Sydney, Australia
Ronald Wanders, Amsterdam, The Netherlands
Saskia Wortmann, Salzburg, Austria/Zürich, Switzerland 

Advisory Board
Ivo Baric, Zagreb, Croatia
Bruce A. Barshop, La Jolla, CA, USA
Michael J. Bennett, Philadelphia, PA, USA
Nenad Blau, Heidelberg, Germany
Nancy Braverman, Montreal, QC, Canada
Alberto Burlina, Padova, Italy
John Christodoulou, Westmead, Sydney, Australia
Peter Clayton, London, UK
Robert J. Desnick, New York, NY, USA
Carlo Dionisi-Vici, Rome, Italy
Johannes Häberle, Zurich, Switzerland
Martina Huemer, Bregenz, Austria/Zürich, Switzerland
Daniela Karall, Innsbruck, Austria
Viktor Kozich, Prague, Czech Republic
Pascal de Lonlay, Paris, France
Ertan Mayatepek, Düsseldorf, Germany
Gajja Salomons, Amsterdam, The Netherlands
Jörn Oliver Sass, Rheinbach, Germany
Jean-Marie Saudubray, Paris, France
Maurizio Scarpa, Padova, Italy
Wolfgang Sperl, Salzburg, Austria
Robert Steiner, Marshfield, WI, USA
Sylvia Stöckler, Vancouver, BC, Canada
Johan Van Hove, Denver, CO, USA
Jerry Vockley, Pittsburgh, PA, USA
John Walter, Manchester, UK
Ron Wevers, Nijmegen, The Netherlands
Frits A. Wijburg, Amsterdam, The Netherlands
William Wilcox, Atlanta, GA, USA

Mutation Nomenclature Editor
Peter Stenson, Cardiff, UK

Statistical Editor
Lars Morkrid, Oslo, Norway

Meet the Editor-in-Chief: 

Dr. Eva Morava is a metabolic pediatrician and clinical biochemical geneticist who was trained at the University of Pécs, Hungary and Tulane University medical School New Orleans. She worked 10 years long at the Nijmegen Center for Mitochondrial Disorders and currently full professor and senior associate consultant at Mayo Clinic’s Rochester and affiliated with UZ Leuven Belgium . Dr. Morava’s research aims at congenital disorders of glycosylation and mitochondrial disorders . Dr. Morava is a member of the SSIEM council, board member at CDG-CARE and subcoordinator at MetabERN. She is editor for JIMD since 2012 and editor in chief since 2016.

Meet the Editors 

Marc Patterson

Marc Patterson, MD, FRACP, FANA, FAAN, is Professor of Neurology, Pediatrics and Medical Genetics at Mayo Clinic College of Medicine; he also serves as a consultant in the Division of Child and Adolescent Neurology at Mayo Clinic, in Rochester, Minnesota. He trained in Neurology, Pediatrics and Metabolic diseases at the University of Queensland in Australia, Mayo Clinic in Rochester Minnesota, and the National Institutes of Health in Bethesda, Maryland, under the supervision of Roscoe Brady, MD. His clinical in research interested focused on lysosomal diseases, and congenital disorders of glycosylation, areas in which he has published widely. He currently serves as the editor in chief for the Journal of Child Neurology, and Child Neurology Open, and as Section Editor for Pediatric Neurology in up-to-date, in addition to serving as an editor for Journal of Inherited Metabolic Disease and JIMD reports. He actively participates in a number of support organizations, including the National Niemann-Pick Disease Foundation, Metachromatic Leukodystrophy Foundation, Niemann-Pick UK, and Ara Parseghian Medical Research Foundation. He has previously served as a member of the topic advisory group for Neurology in the World Health Organization task force to revise ICD -10, as a member of the Committee on Adverse Effects of Vaccines under the aegis of the Institute of Medicine, and in numerous roles for the American Academy of Neurology and Child Neurology Society. Professor Patterson served as Director of Pediatric Neurology at Columbia University in the City of New York from 2000 through 2007, and as the chair of the Division of Child and Adolescent Neurology at Mayo Clinic from 2008 through 2017.

Matthias R. Baumgartner

P_A56240_Portrait Baumgartner_95x120px
Matthias Baumgartner studied Medicine at the University of Basel, Switzerland, where he earned his degree as a medical doctor in 1992. He then went on to do a postgraduate course in experimental medicine and biology at the University of Zurich followed by laboratory work at the Biocentre of the University of Basel. After completing his residency in pediatrics at the University Children’s Hospital Basel and at Hôpital Necker - Enfants Malades in Paris, Prof. Baumgartner continued his training in the United States, where he worked as postdoctoral und clinical fellow at the Mc Kusick-Nathans Institute of Genetic Medicine at Johns Hopkins University, Baltimore, from 1999-2001. He returned to Basel to lead the Metabolic Unit at the University Children’s Hospital. 2 years later Prof. Baumgartner joined the Division of Metabolism & Molecular Pediatrics at the University Children’s Hospital in Zurich. After his habilitation in 2005 hhe was elected as professor for metabolic diseases at the University of Zurich in 2008. Prof. Baumgartner is head of the Division for Metabolic Diseases, Medical Director of the Swiss Newborn Screening Program and since 2017 Diertor of the Children’s Research Center at the Kinderspital Zürich. Since 2012 he leads the clinical research priority program "Rare Disease Initiative Zurich - radiz" at the University of Zurich. He is an iinternationally known metabolic paediatrician and scientist with a main research interest in disorders of intracellular cobalamin metabolism including the homocystinurias and methylmalonic acidurias; he is a steering committee member of the European networks and registries for Homocystinurias and remethylation disorders (E-HOD, www.e-hod.org) and Intoxication type Metabolic Diseases (E-IMD, www.e-imd.org) and an editor of the Journal of Inherited Metabolic Disease.

Shamima Rahman

Professor Shamima Rahman is Professor of Paediatric Metabolic Medicine at the UCL Great Ormond Street Institute of Child Health, London, where she founded the Mitochondrial Research Group in 2000. The Mitochondrial Research Group aims to enhance the diagnosis and treatment of primary mitochondrial diseases. Professor Rahman is also an Honorary Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital, London. She coordinates the Mitochondrial subdomain of the Genomics England Clinical Interpretation Partnership and the Mitochondrial network within the MetabERN European Reference Network, as well as acting as Senior Adviser to the Education and Training Advisory Committee of the Society for the Study of Inborn Errors of Metabolism. Professor Rahman has been an Editor of JIMD since 2014.

Johannes Zschoke

P_A56538_Zschocke Passbild_95x120px
Johannes Zschocke is Professor and Chair of Human Genetics at the Medical University Innsbruck, Austria, where he is also Director of the Department of Medical Genetics, Molecular and Clinical Pharmacology. As Head of the Centre for Medical Genetics Innsbruck he is responsible for the provision of genetic services for the Western Austria and beyond. His clinical and research focus is on inherited metabolic and connective tissue diseases.

For authors and editors

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  • Aims and Scope

    Aims and Scope


    The JIMD is the official journal of the Society for the Study of Inborn Errors of Metabolism, SSIEM. By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society's annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field, and non-peer-reviewed material that aims to be important, controversial, interesting or entertaining.

    The JIMD welcomes scientific contributions in the following categories:

    • Original Articles: Research papers that may be expected to influence or change clinical or research practice with regard to inherited metabolic disorders.
    • Reviews: Concise summaries of metabolic pathways, specific disorders, methods, treatment options etc.
    • Metabolic Dissertations: Summary of research carried out for a doctoral thesis in the area of inherited metabolic disorders, written by a single author, published with photograph.
    • Reports (Research Reports, Case Reports): Short articles that are relevant to clinical or research practice and should be documented in the literature. Reports are published as abstract only, with the full text available online.
    • Images in Metabolic Medicine: Illustrative colour pictures e.g. of clinical findings.
    • Letters: Comments to previous articles or other relevant topics.

    All authors are invited to provide a colour picture that may be used for the front cover of the issue in which the article appears.

    For the non-peer-reviewed section, the JIMD invites submission of Editorials (comments that place JIMD articles into a wider context, usually provided by reviewers of this article), Observations and Opinions (relevant or stimulating opinions or ideas that merit communication), Fillers (interesting stories or personal experiences) and Book Reviews. In addition, the JIMD wishes to publish Obituaries of all recently deceased members of the SSIEM and other persons that were important in the area of inborn metabolic disease.

    Full instructions to authors are available online.

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