نتایج جستجو برای: canavan disease

تعداد نتایج: 1490117  

Journal: :Progress in neurobiology 2007
John R Moffett Brian Ross Peethambaran Arun Chikkathur N Madhavarao Aryan M A Namboodiri

The brain is unique among organs in many respects, including its mechanisms of lipid synthesis and energy production. The nervous system-specific metabolite N-acetylaspartate (NAA), which is synthesized from aspartate and acetyl-coenzyme A in neurons, appears to be a key link in these distinct biochemical features of CNS metabolism. During early postnatal central nervous system (CNS) developmen...

Journal: :Human molecular genetics 1997
A P Shuber L A Michalowsky G S Nass J Skoletsky L M Hire S K Kotsopoulos M F Phipps D M Barberio K W Klinger

As more mutations are identified in genes of known sequence, there is a crucial need in the areas of medical genetics and genome analysis for rapid, accurate and cost-effective methods of mutation detection. We have developed a multiplex allele-specific diagnostic assay (MASDA) for analysis of large numbers of samples (> 500) simultaneously for a large number of known mutations (> 100) in a sin...

2013
Patrick M. Long Scott W. Tighe Heather E. Driscoll John R. Moffett Aryan M. A. Namboodiri Mariano S. Viapiano Sean E. Lawler Diane M. Jaworski

Cancer is associated with globally hypoacetylated chromatin and considerable attention has recently been focused on epigenetic therapies. N-acetyl-L-aspartate (NAA), the primary storage form of acetate in the brain, and aspartoacylase (ASPA), the enzyme responsible for NAA catalysis to generate acetate and ultimately acetyl-Coenzyme A for histone acetylation, are reduced in oligodendroglioma. T...

2016
Despo Ierodiakonou Michael A. Portelli Dirkje S. Postma Gerard H. Koppelman Jorrit Gerritsen Nick H.T. ten Hacken Wim Timens H. Marike Boezen Judith M. Vonk Ian Sayers

with COPD: a prospective cohort study. Chest 2011; 140: 331–342. 4 Watz H, Pitta F, Rochester CL, et al. An official European Respiratory Society statement on physical activity in COPD. Eur Respir J 2014; 44: 1521–1537. 5 Garfield BE, Canavan JL, Smith CJ, et al. Stanford Seven-Day Physical Activity Recall questionnaire in COPD. Eur Respir J 2012; 40: 356–362. 6 Williams K, Frei A, Vetsch A, et...

Journal: :JPMA. The Journal of the Pakistan Medical Association 1981
M S Akhtar M Ajmal

The rate of caries has long been observed to be very low in the users of chewing-sticks even when they consume high carbohydrate diets. Recent researches have revealed that the chewing-sticks help in cleaning the teeth not simply due to mechanical removal of plaque but also due to their chemical constituents that possess the properties of whitening the teeth, protecting them from decay and remo...

2014
Parvaneh KARIMZADEH Narjes JAFARI Habibe NEJAD BIGLARI Elham RAHIMIAN Farzad AHMADABADI Hamid NEMATI Mohamad Mehdi NASEHI Mohammad GHOFRANI Mohsen MOLLAMOHAMMADI

OBJECTIVE Canavan's disease is a lethal illness caused by a single gene mutation that is inherited as an autosomal recessive pattern. It has many different clinical features especially in the non-Ashkenazi Jewish population. MATERIAL & METHODS 45 patients were referred to the Pediatric Neurology Department of Mofid Children's Hospital in Tehran-Iran from 2010-2014 with a chief complaint of ne...

Journal: :Brain 2009
Karolina Kołodziejczyk Nicola B. Hamilton Anna Wade Ragnhildur Káradóttir David Attwell

Elevations of the levels of N-acetyl-aspartyl-glutamate (NAAG) and N-acetyl-aspartate (NAA) are associated with myelin loss in the leucodystrophies Canavan's disease and Pelizaeus-Merzbacher-like disease. NAAG and NAA can activate and antagonize neuronal N-methyl-D-aspartate (NMDA) receptors, and also act on group II metabotropic glutamate receptors. Oligodendrocytes and their precursors have r...

Journal: :Chest 2011
Bas Robberts Tjard Schermer

www.chestpubs.org with once daily tiotropium compared with twice daily salmeterol in patients with COPD . Thorax . 2003 ; 58 ( 5 ): 399 404 . 12 . Brusasco V , Hodder R , Miravitlles M , Korducki L , Towse L , Kesten S . Health outcomes following treatment for 6 months with once daily tiotropium compared with twice daily salmeterol in patients with COPD . Thorax . 2006 ; 61 ( 1 ): 91 . 13 . Cal...

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