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Home | Pyridoxine Dependent Epilepsy

The potentials of a novel add-on therapy. Lysine restriction has been shown by our proof of principle study (van Karnebeek, Hartmann et al; Molec Genet Metab 2012;107:335-44). To reduce neurotoxic metabolites and improve, seizure control, behavior and/or psychomotor development. However more evidence is required before diet becomes mainstay therapy. If you have signed up and received login details, you can enter the registry directly via the link below. Better unravel PDE disease mechanisms. Improve trea...

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Home | Pyridoxine Dependent Epilepsy | pdeonline.org Reviews

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The potentials of a novel add-on therapy. Lysine restriction has been shown by our proof of principle study (van Karnebeek, Hartmann et al; Molec Genet Metab 2012;107:335-44). To reduce neurotoxic metabolites and improve, seizure control, behavior and/or psychomotor development. However more evidence is required before diet becomes mainstay therapy. If you have signed up and received login details, you can enter the registry directly via the link below. Better unravel PDE disease mechanisms. Improve trea...

<META> KEYWORDS

1 pyridoxine dependent epilepsy

2 for professionals

3 pde registry

4 for patients

5 pde consortium

6 site navigation

7 teleportme

8 acccess pde registry

9 research database

10 pde recommendations

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pyridoxine dependent epilepsy,for professionals,pde registry,for patients,pde consortium,site navigation,teleportme,acccess pde registry,research database,pde recommendations,pde diet app,mission,articles,wwwmetabolicdietapp org,pde clinical spectrum

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Home | Pyridoxine Dependent Epilepsy | pdeonline.org Reviews

https://pdeonline.org

The potentials of a novel add-on therapy. Lysine restriction has been shown by our proof of principle study (van Karnebeek, Hartmann et al; Molec Genet Metab 2012;107:335-44). To reduce neurotoxic metabolites and improve, seizure control, behavior and/or psychomotor development. However more evidence is required before diet becomes mainstay therapy. If you have signed up and received login details, you can enter the registry directly via the link below. Better unravel PDE disease mechanisms. Improve trea...

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pdeonline.org

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Information on PDE for Professionals

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Let us know who you are via the form below or enter de-identified patient data in the PDE registry via the buton top right. PDE caused To Antiquitin (ATQ) Deficiency: Altered Lysine Metabolism. Deficiency of lysine degradation can lead to the chemical inactivation of pyridoxine, leading to potentially damaging levels of neurotoxic substances. Dietary Lysine Restriction Co-Therapy. First patient results are promising. But ‘we are not there yet'. At this stage the evidence is still limited. We need to ...

2

Members of the PDE consortium

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We look forward to collaborating with clinicians, scientists and families around the world to improve health outcome of individuals affected by PDE. If you are interested to join us or your name is not on the list while it should be, please email us via the contact form below:. Members of the PDE Consortium:. Orange County, USA. Bruce A Barshop -. San Diego, California, USA. Veldhoven, The Netherlands. Jean Paul Collet -. Aurora, Colorado USA. Michael S Duchowny -. Paul Graham Fisher -. Andrea L Gropman -.

3

Information on PDE for families and patients

http://www.pdeonline.org/pat.html

We are collecting medical data from people to generate more solid evidence and gain greater insight into the development of the disease and effect of treatments. This information will be put into a database (International PDE Registry), which we can then use to better understand this rare disease, improve patient care and achieve the best health outcomes for the individuals with this condition. What kind of medical data will be collected? The following information will be collected throughout time:.

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mdapp.org

PDE | Metabolic Diet App

http://www.mdapp.org/pde.html

Pyridoxine dependent epilepsy (PDE). Is a rare genetic disorder caused by Antiquitin (ATQ) deficiency. Because people with PDE have problems with lysine breakdown, a lysine (protein) restricted diet has been added to regular medical treatment for PDE. This App is designed to support families and children with PDE, treated with the lysine-restricted diet as add on therapy to vitamin B6. Pyridoxine dependent epilepsy (PDE) is a rare genetic. Disorder caused by Antiquitin (ATQ) deficiency. The goal of the d...

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HealtH2Media Portofolio

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Custom design and development. Some examples of our work. Hover images to see more info. An informative website with dedicated portals, referral system for patients and newsblog. An interactive tool for clinician and scientist. Informative website for the Adult Metabolic Diseases Clinic, VGH. Creation of multi functional surveys and databases using REDCap. They all look the same.because your content deserves the attention of your audience we create stunning presentations.

metabolicdietapp.org

PDE | Metabolic Diet App

http://www.metabolicdietapp.org/pde.html

Pyridoxine dependent epilepsy (PDE). Is a rare genetic disorder caused by Antiquitin (ATQ) deficiency. Because people with PDE have problems with lysine breakdown, a lysine (protein) restricted diet has been added to regular medical treatment for PDE. This App is designed to support families and children with PDE, treated with the lysine-restricted diet as add on therapy to vitamin B6. Pyridoxine dependent epilepsy (PDE) is a rare genetic. Disorder caused by Antiquitin (ATQ) deficiency. The goal of the d...

morquiob.org

Our accomplishments so far

http://www.morquiob.org/acc.html

Accomplishments of Consortium Founders. Members of the MB Consortium have already contributed advances in the understanding and treatment of Morquio B and GM-1 gangliosidosis. From the Center for Lysosomal Storage Diseases, Children's Hospital of the Johannes Gutenberg University, Mainz, Germany has been engaged in the research of lysosomal storage diseases for many years and has been at the forefront of exploring treatment options such as enzyme replacement, small molecules and gene therapy. Interested ...

morquiob.org

Our future plans & accomplishments

http://www.morquiob.org/futacc.html

Accomplishments of Consortium Founders. Members of the MB Consortium have already contributed advances in the understanding and treatment of Morquio B and GM-1 gangliosidosis. From the Center for Lysosomal Storage Diseases, Children's Hospital of the Johannes Gutenberg University, Mainz, Germany has been engaged in the research of lysosomal storage diseases for many years and has been at the forefront of exploring treatment options such as enzyme replacement, small molecules and gene therapy. We intend t...

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Home | Pyridoxine Dependent Epilepsy

The potentials of a novel add-on therapy. Lysine restriction has been shown by our proof of principle study (van Karnebeek, Hartmann et al; Molec Genet Metab 2012;107:335-44). To reduce neurotoxic metabolites and improve, seizure control, behavior and/or psychomotor development. However more evidence is required before diet becomes mainstay therapy. If you have signed up and received login details, you can enter the registry directly via the link below. Better unravel PDE disease mechanisms. Improve trea...

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Partnership for Dietetic Education and Practice. The Alliance of Canadian Dietetic Regulatory Bodies, Dietitians of Canada, and dietetic educators from academic and practicum programs across Canada have come together as the Partnership for Dietetic Education and Practice to advance excellence in dietetic education and practice. Who we are and what we do. What is it and which programs are Accredited. All you need to prepare for Accreditation. Call for Applications to the PDEP Accreditation Council.

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