Comments for The OMMBID Blog http://books.mcgraw-hill.com/medical/ommbid/blog This blog is intended to create discussion that leads to a better understanding of diseases of human mutation. Thu, 12 Apr 2012 20:50:25 +0000 hourly 1 http://wordpress.org/?v=3.1.4 Comment on Autism by nicolab http://books.mcgraw-hill.com/medical/ommbid/blog/2012/04/12/autism/#comment-487 nicolab Thu, 12 Apr 2012 20:50:25 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1656#comment-487 Nicola Brunetti-Pierri, MD, FACMG Assistant Professor Department of Pediatrics, Federico II University of Naples & Telethon Institute of Genetics and Medicine Via Pietro Castellino 111 80131 Napoli, ITALY phone +39 081 6132361 fax. +39 081 5609877 e-mail: brunetti@tigem.it Nicola Brunetti-Pierri, MD, FACMG
Assistant Professor
Department of Pediatrics,
Federico II University of Naples
&
Telethon Institute of Genetics and Medicine
Via Pietro Castellino 111
80131 Napoli, ITALY
phone +39 081 6132361
fax. +39 081 5609877
e-mail: brunetti@tigem.it

]]> Comment on Pyridoxine dependent epilepsy by shashankgupta225 http://books.mcgraw-hill.com/medical/ommbid/blog/2006/07/18/50/#comment-443 shashankgupta225 Sun, 07 Mar 2010 13:16:22 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=50#comment-443 Here is a link to more information about the genetics of Pyridoxine Dependent Epilepsy that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Pyridoxine_Dependent_Epilepsy/320. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA Student Here is a link to more information about the genetics of Pyridoxine Dependent Epilepsy that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Pyridoxine_Dependent_Epilepsy/320. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

Student

]]> Comment on Pyridoxine dependent epilepsy by shashankgupta225 http://books.mcgraw-hill.com/medical/ommbid/blog/2006/07/18/50/#comment-442 shashankgupta225 Sun, 07 Mar 2010 13:15:41 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=50#comment-442 Here is a link to more information about the genetics of Pyridoxine Dependent Epilepsy that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Pyridoxine_Dependent_Epilepsy/320. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA Here is a link to more information about the genetics of Pyridoxine Dependent Epilepsy that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Pyridoxine_Dependent_Epilepsy/320. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

]]> Comment on Pyridoxine dependent epilepsy by shashankgupta225 http://books.mcgraw-hill.com/medical/ommbid/blog/2006/07/18/50/#comment-440 shashankgupta225 Fri, 19 Feb 2010 14:57:45 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=50#comment-440 Here is a link to more information about the genetics of Pyridoxal 5 Phosphate Dependent Epilepsy that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Pyridoxal_5_Phosphate_Dependent_Epilepsy/319. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA Here is a link to more information about the genetics of Pyridoxal 5 Phosphate Dependent Epilepsy that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Pyridoxal_5_Phosphate_Dependent_Epilepsy/319. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

]]> Comment on High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening by shashankgupta225 http://books.mcgraw-hill.com/medical/ommbid/blog/2006/08/13/high-incidence-of-later-onset-fabry-disease-revealed-by-newborn-screening/#comment-439 shashankgupta225 Thu, 04 Feb 2010 11:46:04 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=54#comment-439 Here is a link to more information about the genetics of Fabry Disease that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Fabry_Disease/140. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA Here is a link to more information about the genetics of Fabry Disease that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Fabry_Disease/140. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

]]> Comment on Ethylmalonic encephalopathy by shashankgupta225 http://books.mcgraw-hill.com/medical/ommbid/blog/2006/05/26/ethylmalonic-encephalopathy/#comment-438 shashankgupta225 Thu, 04 Feb 2010 11:40:27 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=33#comment-438 Here is a link to more information about the genetics of Ethylmalonic Encephalopathy that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Ethylmalonic_Encephalopathy/138. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA Here is a link to more information about the genetics of Ethylmalonic Encephalopathy that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Ethylmalonic_Encephalopathy/138. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

]]> Comment on Nonsense-mediated decay of RNA occurs frequently in carbamyl phosphate synthetase I deficiency. by shashankgupta225 http://books.mcgraw-hill.com/medical/ommbid/blog/2006/11/27/nonsense-mediated-decay-of-rna-occurs-frequently-in-carbamyl-phosphate-synthetase-i-deficiency/#comment-436 shashankgupta225 Tue, 02 Feb 2010 17:30:57 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=102#comment-436 Here is a link to more information about the genetics of Carbamoyl Phosphate Synthetase I Deficiency that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Carbamoyl_Phosphate_Synthetase_I_Deficiency/73. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA Here is a link to more information about the genetics of Carbamoyl Phosphate Synthetase I Deficiency that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Carbamoyl_Phosphate_Synthetase_I_Deficiency/73. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

]]> Comment on A New Year’s baby’s newborn screening by shashankgupta225 http://books.mcgraw-hill.com/medical/ommbid/blog/2007/01/11/a-new-year%e2%80%99s-baby%e2%80%99s-newborn-screening/#comment-435 shashankgupta225 Fri, 22 Jan 2010 17:51:36 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=129#comment-435 Here is a link to more information about the genetics of Beta Ketothiolase Deficiency that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Beta_Ketothiolase_Deficiency/58. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA Here is a link to more information about the genetics of Beta Ketothiolase Deficiency that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Beta_Ketothiolase_Deficiency/58. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

]]> Comment on Mefolinate (5-methyltetrahydrofolate) as a treatment of severe MTHFR deficiency by tintin1973 http://books.mcgraw-hill.com/medical/ommbid/blog/2008/06/29/mefolinate-5-methyltetrahydrofolate-as-a-treatment-of-severe-mthfr-deficiency/#comment-434 tintin1973 Fri, 13 Nov 2009 13:03:20 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1284#comment-434 tetrahydrofolate in any form is very radical in the general , and this is a nice find, how does MTHF run the gamut of FDA and is it OTC ? <a href="http://www.alcoholism.co.in" rel="nofollow">alcoholism deaddiction</a> tetrahydrofolate in any form is very radical in the general , and this is a nice find, how does MTHF run the gamut of FDA and is it OTC ?
alcoholism deaddiction

]]> Comment on Succinate dehydrogenase and leukoencephalopathy by tintin1973 http://books.mcgraw-hill.com/medical/ommbid/blog/2009/07/27/succinate-dehydrogenase-and-leukoencephalopathy/#comment-433 tintin1973 Fri, 13 Nov 2009 13:00:14 +0000 http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1303#comment-433 thanks for the information, looking for some <a href="http://www.cerebralpalsy.co.in" rel="nofollow">cerebral palsy resources</a> <a href="http://www.cerebralpalsy.co.in" title="cerebral palsy resources" rel="nofollow"></a> thanks for the information, looking for some
cerebral palsy resources

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