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Science and Medicine interests. June 9, 2016. My family has just tested with 23andme and we learned that my son and I are carriers for a congenital disorder of glycosylation, type 1a. We have the R141H variant, which appears to be the most common. It seems though that this particular variant is disease causing on its own as there it has never been documented in the homozygous state. You can read more here. What to do when there are no answers. December 6, 2014. September 26, 2014. Our son is currently be...

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Science and Medicine interests | horsesandzebras.com Reviews

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Science and Medicine interests. June 9, 2016. My family has just tested with 23andme and we learned that my son and I are carriers for a congenital disorder of glycosylation, type 1a. We have the R141H variant, which appears to be the most common. It seems though that this particular variant is disease causing on its own as there it has never been documented in the homozygous state. You can read more here. What to do when there are no answers. December 6, 2014. September 26, 2014. Our son is currently be...

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Science and Medicine interests | horsesandzebras.com Reviews

https://horsesandzebras.com

Science and Medicine interests. June 9, 2016. My family has just tested with 23andme and we learned that my son and I are carriers for a congenital disorder of glycosylation, type 1a. We have the R141H variant, which appears to be the most common. It seems though that this particular variant is disease causing on its own as there it has never been documented in the homozygous state. You can read more here. What to do when there are no answers. December 6, 2014. September 26, 2014. Our son is currently be...

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horsesandzebras.com

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MNGIE | Science and Medicine interests

https://horsesandzebras.com/2014/09/26/mngie

Science and Medicine interests. September 26, 2014. Our son is currently being evaluated for this condition. It is an autosomal recessive condition, in which each parent contributes one defective TYMP gene, which encodes for Thymidine Phosphorylase. The disease often presents with gastrointestinal motility and eye problems. It often leads to cachexia, peripheral neuropathy, and leukoencephalopathy. Http:/ link.springer.com/article/10.1007%2Fs10545-010-9049-y. What to do when there are no answers. Get eve...

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What to do when there are no answers. | Science and Medicine interests

https://horsesandzebras.com/2014/12/06/what-to-do-when-there-are-no-answers

Science and Medicine interests. What to do when there are no answers. December 6, 2014. We have just received the results of my son’s muscle enzyme analysis. The report says its completely normal. Instead of low enzyme levels, a common finding in mitochondrial disease, his levels are high in 3 different complexes. We have reached the end of diagnostic options. His doctor says our last option is Whole Exome Sequencing (WES). Leave a Reply Cancel reply. Enter your comment here. Address never made public).

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Greetings | Science and Medicine interests

https://horsesandzebras.com/2014/08/01/greetings

Science and Medicine interests. August 1, 2014. I am going to use this blog to write about current research in medicine and other topics I find interesting. I’m not a doctor or a researcher, but I have an amateur interest in medicine and desire to learn more. Leave a Reply Cancel reply. Enter your comment here. Fill in your details below or click an icon to log in:. Address never made public). You are commenting using your WordPress.com account. ( Log Out. Notify me of new comments via email.

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lewisfamily2014 | Science and Medicine interests

https://horsesandzebras.com/author/lewisfamily2014

Science and Medicine interests. All posts by lewisfamily2014. June 9, 2016. My family has just tested with 23andme and we learned that my son and I are carriers for a congenital disorder of glycosylation, type 1a. We have the R141H variant, which appears to be the most common. It seems though that this particular variant is disease causing on its own as there it has never been documented in the homozygous state. You can read more here. What to do when there are no answers. December 6, 2014. Our son is cu...

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About | Science and Medicine interests

https://horsesandzebras.com/about

Science and Medicine interests. This is an example of a page. Unlike posts, which are displayed on your blog’s front page in the order they’re published, pages are better suited for more timeless content that you want to be easily accessible, like your About or Contact information. Click the Edit link to make changes to this page or add another page. Leave a Reply Cancel reply. Enter your comment here. Fill in your details below or click an icon to log in:. Address never made public).

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horsesandzebras.com

Science and Medicine interests

Science and Medicine interests. June 9, 2016. My family has just tested with 23andme and we learned that my son and I are carriers for a congenital disorder of glycosylation, type 1a. We have the R141H variant, which appears to be the most common. It seems though that this particular variant is disease causing on its own as there it has never been documented in the homozygous state. You can read more here. What to do when there are no answers. December 6, 2014. September 26, 2014. Our son is currently be...

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