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Therapies for genetic conditions: Update
Pompe disease is a rare genetic disorder caused by a deficiency of an enzyme – acid alpha-glucosidase (GAA) – which is needed to break down glycogen.
iHOP – A gene network for navigating the literature
Nat Genet. 2004 Jul;36(7):664.
A gene network for navigating the literature.
Hoffmann R, Valencia A.
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This new portal is exponentially popular. According to the developpers, “By using genes and proteins as hyperlinks between sentences and abstracts, the information in PubMed can be converted into one navigable resource, bringing all advantages of the internet to scientific literature research. “.
Find out more at http://www.ihop-net.org/UniPub/iHOP/
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
Historical perspectives in genetics
For interesting perspectives on the history of genetics, please refer to these websites, books and papers:
Electronic Scholarly Publishing, started by Robert J Robbins.
Nature Reviews in Genetics series on Historical Profiles and the History of genetic diseases.
Landmarks in Medical Genetics
Classic Papers with Commentaries
Edited by Peter S. Harper
ISBN 13: 9780195159301
ISBN 10: 0195159306
336 pages, 2004Â
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The Journal of the History of Medicine and Allied RessourcesÂ
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Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
Urinary screening for Fabry disease
Screening for Fabry disease on urine collected by filter paper might eventually become a reality with the method referred to in this short report:
C. Auray-Blais, D. Cyr, K. Mills, R. Giguère and R. Drouin
J Inherit Metab Dis, January 2007
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
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Book: Inborn Metabolic Diseases
The newest edition of one of the most clinically useful books in the field:
Inborn Metabolic Diseases
Diagnosis and Treatment
4th, rev. ed., 2006, XXII, 561 p., 65 illus., Hardcover
ISBN-10: 3-540-28783-3
ISBN-13: 978-3-540-28783-4
On a related topic, see chapter 66 of OMMBID:
Clinical Phenotypes: Diagnosis/Algorithms
Authors: Jean-Marie Saudubray, Christiane Charpentier
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
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Drugs for rare conditions
J Intern Med. 2006 Jul;260(1):1-10.
A journey of hope: lessons learned from studies on rare diseases and orphan
drugs.
Wastfelt M, Fadeel B, Henter JI.
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This article gives interesting insights on the development of orphan drugs for rare disorders. It also contains a list of great websites.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
Metabolic autopsy
J Pediatr. 2006 Jun;148(6):779-83.
The value of the metabolic autopsy in the pediatric hospital setting.
Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR.
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In this review of 23 cases performed at the Children’s Hospital of Philadelphia, a metabolic autopsy permitted the identification of an undiagnosed metabolic disease in 18% of the cases.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
del.icio.us and technorati tools
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Science blogs and related websites
Science roll, a journey in genetics and medicine
Ouroboros, research in the biology of aging
North Carolina Science Blogging Conference
Bio::blogs and the conference edition
Omics! Omics! (nice title)
Xcovery blog – kinase industry knowledge collected and sometimes analyzed
Have fun browsing!
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
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