Posts Categorized: _



Liver disease despite treatment in CDG-Ib

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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib was first described in Québec, Canada. It is characterized by chronic diarrhea with failure to thrive, protein-losing enteropathy, coagulopathy and occasionnaly hepatic fibrosis. Mannose therapy improves the general condition and the digestive symptoms of these patients. However, it does not prevent liver fibrosis, as demonstrated in this paper: Mol […]



Join Dr. Charles Scriver at the 57th Annual ASHG Meeting

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The 57th annual meeting for the American Society of Human Genetics is being held in San Diego, CA, October 24-26, 2007. blackberry phone spy software While there, visit the McGraw-Hill Booth, #122, and join Dr. Charles Scriver, who will be there on Wednesday, Oct. 24, at 4:30 p.m. zp8497586rq



Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 28: NEUROGENETICS, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, _.

A group led by Orly Elpeleg has identified a gene associated with pontocerebellar hypoplasia, a heterogenous group of conditions. Deleterious Mutation in the Mitochondrial ArginylTransfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, and Orly Elpeleg The American Journal of […]



PRPS1 is involved in two more conditions

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Arts syndrome (mental retardation, early-onset hypotonia,ataxia, delayed motor development, hearing impairment,and optic atrophy) AND Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5) have booth recently been showed to be caused by mutations in PRPS1. This expands the number of conditions caused by mutations in genes encoding proteins important for purine and pyrimidine metabolism. […]



Metabolome project

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The human metabolome project is included in this great new OMMBID chapter (Chapter 3.1). The Human Metabolome Project was recently featured in Science.  Enjoy! Philippe Campeau 



crtap sequencing

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Good morning all, Baylor's Medical Genetics Laboratories would like to announce the addition of a new test. We are now offering diagnostic sequencing testing for Autosomal Recessive Osteogenesis Imperfecta-CRTAP gene. The sequencing test and the KFM is found on our DNA requisition form: http://www.bcm.edu/geneticlabs/forms/dna.pdf Also, we will offer a Prenatal for this test. http://www.bcm.edu/geneticlabs/forms/prenatal.pdf Test […]