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The Online Metabolic and Molecular Bases of Inherited Disease The UNPARALLELED resource for understanding the genetic contribution to health and disease ommbid.com McGraw-Hill Medical Two Penn Plaza, 9th Floor New York, NY 10121 ommbid.com Contact us today for a 30-day FREE TRIAL! Visit ommbid.com OMMBID offers retrievable institutional usage statistics and a MARC 21 record, external Open URL-enable links to primary literature via PubMed, and has advanced search capabilities, including full-text Boolean search. OMMBID also offers flexible access for both in-network and remote users via IP authentication, Athens authentication, referral URL, and/or username and password. 1-877-840-2297 (US) or 1-614-759-3663 (outside the US) [email protected] | ommbid.com For additional information: ACM-6c © McGraw-Hill Education MGH/11-13/2400

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  • The Online Metabolicand Molecular Basesof Inherited Disease

    The UNPARALLELED resource for understanding the genetic

    contribution to health and disease

    ommbid.com

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    Contact us today for a 30-day FREE TRIAL!

    Visit ommbid.com

    OMMBID offers retrievable institutional usage statistics and a MARC 21 record, external Open URL-enable links to primary literature via PubMed, and has advanced search capabilities, including full-text Boolean search. OMMBID also offers flexible access for both in-network and remote users via IP authentication, Athens authentication, referral URL, and/or username and password.

    1-877-840-2297 (US) or 1-614-759-3663 (outside the US) [email protected] | ommbid.com

    For additional information:

    ACM-6c © McGraw-Hill Education MGH/11-13/2400

  • Innovative interactive tools and features

    deliver encyclopedic coverage of a host of

    human disorders

    Essential coverage of the role of the genes and

    genetic mechanisms in all human diseases . . .

    at the library, in the laboratory, or classroom.

    OMMBIDTM from McGraw-Hill Medical is an essential online resource that offers comprehensive coverage of the clinical phenotype, biochemical abnormalities, genes, and genetic mechanisms

    underlying human disease states, from PKU to coronary artery disease, from chromosomal

    disorders to cancer. An online continuation of the world’s most respected book on the subject,

    Metabolic and Molecular Bases of Inherited Disease, OMMBID provides geneticists, researchers, students, clinicians, fellows, and educators involved with the causation and treatment of inherited

    diseases with cutting-edge information spanning the entire field of genetics. Much more

    than a literature synopsis, OMMBID delivers the latest knowledge on the metabolic and molecular underpinnings of an ever-growing list of inherited diseases—as well as updates on

    pathophysiology and treatment.

    New chapters and sections—Stay current with recent

    developments in cancer genetics, mitochondrial disease,

    lysosomal enzyme therapy, along with chapters on

    missense mutations, misfolding of proteins, and

    chaperones in the pathogenesis of phenotypes.

    Chapter updates—Receive supplemental and updated

    chapters continually being added that reflect

    breakthrough developments in the field of genetics.

    Clinical phenotypes—Benefit from leading metabolic

    specialist Dr. Jean-Marie Saudubray’s seminal chapter

    on syndromes and systems—offering concise differential

    diagnostic approaches and algorithms for diagnosing

    highly specific syndromes and systems.

    High-quality image galleries—View hundreds of

    images and complex illustrations of topics such as

    clinical presentations, metabolic pathways, protein

    interactions, and genetic modeling that will assist in

    visual diagnosis, research, and teaching.

    My Access Account—As part of the MH Medical

    platform, users can create a My Access account to save

    images, use Custom Curriculum, and log in remotely via

    a mobile device.

    The OMMBID Blog—Keep pace with the latest news

    in genetic research and findings through an active blog

    guided by a board of vetted and distinguished researchers. OMMBID can be viewed

    on any device—making it easy to get information instantly.

    Tailored to your genetics program

    Custom Curriculum is a powerful curriculum workflow tool that enables genetics instructors to

    customize and manage student learning from one convenient site:

    • Build curriculum-specific topics, incorporate images, and create your own assessment questions to track individual student progress

    • Match your program’s unique education structure

    Fellows and students can study procedures and test themselves, as well as track their

    performance, using faculty-selected resources.

    OMMBID’s Advisory Board

    Editor-in-Chief

    David Valle, MD The Johns Hopkins University School of Medicine

    Editors:

    Stylianos E. Antonarakis, MD University of Geneva Medical School

    Andrea Ballabio, MD Telethon Institute of Genetics and Medicine

    K. Michael Gibson, PhD, FACMG Michigan Technological University

    Kenneth W. Kinzler, PhD The Johns Hopkins University School of Medicine

    Grant Mitchell Université de Montréal

    Bert Vogelstein, MD The Johns Hopkins University School of Medicine

    Editors Emeritus:

    Arthur Beaudet, MD Baylor College of Medicine

    Charles R. Scriver, MDCM, FRS McGill University

    William S. Sly, MD St. Louis University School of Medicine

    Part Editors:

    Fred Bunz, MD, PhD The Johns Hopkins University School of Medicine