Comments on: Pompe disease, a rare but important genetic condition

By: Carpal tunnel

Carpal tunnel — Thu, 06 Oct 2011 20:10:52 +0000

i like the proposal writing part i have to keep these points in my mind for writing a better proposal in future as i am also a small business entrepreneur..thanks for sharing..

By: Aireen B. Lee

Aireen B. Lee — Wed, 11 Nov 2009 08:05:18 +0000

I read your article, and i decided to write. About the no. 28 question, yes, you can find it here in the Philippines. Unfortunately my niece, experienced the hypertonic cardiomyopathy, and part of the lobe of her lungs collapsed. The doctor suspected it maybe a pompe disease. She undegone the blood test. Such blood test will be sent to Taiwan for testing. Right now, we are praying that it will be negative.

By: Berci Mesko

Berci Mesko — Mon, 03 Nov 2008 08:20:25 +0000

You can try this. Juan is blogging at http://www.fightpompe.com/

By: Ma. Charisse B. Macaraeg

Ma. Charisse B. Macaraeg — Mon, 03 Nov 2008 08:16:38 +0000

where can we find a patient having pompe disease here in the philippines?

By: Bertalan Meskó

Bertalan Meskó — Sat, 24 May 2008 06:08:46 +0000

Drena,
There are Infantile, juvenile and adult onset forms.

And here is a link about the treatment options: http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II#Treatment

By: drena

drena — Tue, 20 May 2008 10:47:59 +0000

how serious is pompe disease? can it be diognoised later in life or do you have it from birth? is it being treated in the u.s.a? what kind of treatment is there?

By: ROCK

ROCK — Thu, 13 Mar 2008 21:21:04 +0000

There is a dried blood spot test for Pompe disease. It costs around $250 dollars but is covered under most insurances. Genetest.org will explain Pompe genetic tests. It is also known as acid maltase deficiency.

By: Michelle

Michelle — Thu, 28 Feb 2008 18:24:37 +0000

What kind of genetic testing is available for Pompe Disease? And approximately how much does it cost?

By: Bertalan Meskó

Bertalan Meskó — Mon, 05 Nov 2007 07:00:30 +0000

You always have some kind words for me.

To be honest, that’s the post I’m most proud of.

By: family portrait artist

family portrait artist — Mon, 05 Nov 2007 04:19:59 +0000

Your blog and your every post always fascinate me. Unlike most of my health practitioner friends, you’re the only person I know who is engrossed with Science and the human body/health yet has this time to write and write and write. Keep going pal.

By: Face to face: Gaucher Disease by medtrials.info

Face to face: Gaucher Disease by medtrials.info — Mon, 09 Jul 2007 23:09:51 +0000

[...] months ago, I wrote about Pompe disease, a rare, but important genetic disorder. I wanted to build awareness on the diagnostic delay, the [...]

By: Towards a World without Genetic Diseases « ScienceRoll

Towards a World without Genetic Diseases « ScienceRoll — Sun, 08 Jul 2007 01:20:13 +0000

[...] is also crucial regarding genetic conditions? To avoid the diagnostic delay (so to diagnose the disorders in [...]

By: Bertalan Meskó

Bertalan Meskó — Tue, 03 Jul 2007 17:28:26 +0000

It’s not easy to diagnose during pregnancy. A proper family screening can be very useful.

By: Sam

Sam — Tue, 03 Jul 2007 16:48:43 +0000

Does anyone know if this disease can be diagnosed during pregnancy?

By: Face to face: Gaucher Disease « ScienceRoll

Face to face: Gaucher Disease « ScienceRoll — Sat, 30 Jun 2007 19:29:21 +0000

[...] Medical education, Invention, Health, Medicine, Web 2.0. trackback Some months ago, I wrote about Pompe disease, a rare, but important genetic disorder. I wanted to build awareness on the diagnostic delay, the [...]

By: Martin

Martin — Wed, 30 May 2007 11:39:10 +0000

Please note that myozyme(R) was EMEA-approved for infantile as well as juvenile/adult M. Pompe but proof for effectiveness in juvenile/adult diesease is still missing (a least, there’s a study going on). M.

By: Gene Genie: The First Issue at Scienceroll « Gene Genie

Gene Genie: The First Issue at Scienceroll « Gene Genie — Sun, 06 May 2007 06:40:56 +0000

[...] Genie (sorry for using my works, but in the first issue, it might be forgivable). I wrote about Pompe disease, a rare but important genetic condition and the frequent diagnostic delays. Then I said goodbye to Sonic Hedgehog, a gene with a weird and [...]

By: The Gene Genie: Second Issue at Sciencesque « Gene Genie

The Gene Genie: Second Issue at Sciencesque « Gene Genie — Sun, 06 May 2007 06:40:36 +0000

[...] articles from Berci Mesko at ScienceRoll. Near the beginning of February, Berci wrote an article on Pompe disease, a rare but serious glyogen storage disorder caused by a deficiency in the acid alpha-glucosidase [...]

By: Janet

Janet — Tue, 20 Mar 2007 15:07:10 +0000

My Hushand, Was a big & strong man & now his muscles are weak & his hand is weak, Could this be pompe disease?

By: The Gene Genie: Issue 2 « Sciencesque

The Gene Genie: Issue 2 « Sciencesque — Sat, 03 Mar 2007 21:51:39 +0000

[...] articles from Berci Mesko at ScienceRoll. Near the beginning of February, Berci wrote an article on Pombe disease, a rare but serious glyogen storage disease caused by a deficiency in the acid alpha-glucosidase [...]