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e-imd | e-imd.org Reviews
https://e-imd.org
E-IMD
e-imd.org
e-imd - Description of project
http://www.e-imd.org/en/about-e-imd/progress-project/index.phtml
E-IMD is the acronym for the European registry and network for intoxication type metabolic diseases. Its aim is to promote health for individuals affected with an organic aciduria (OAD) or with a urea cycle defect (UCD). E-IMD has been funded by the European Commission through its Public Health and Consumer Protection Directorate (DG SANCO), PHEA programme. OADs and UCDs are rare diseases. It is, therefore, essential for healthcare professionals working in this area to collaborate and to:. If you are a p...
e-imd - E-IMD partners
http://www.e-imd.org/en/about-e-imd/e-imd-partners/index.phtml
E-IMD has more than 80 partners (60 of them are clinical partners) from 24 countries. It has established links between healthcare professionals, patient representatives, industry and government authorities within Europe, candidate countries, the US, Canada, and Australia. E-IMD will continue to expand its network by inviting new members from underrepresented countries. Clinical partners (associate and collaborating). Medizinische Universität Innsbruck, Sektionen Humangenetik und Klinische Genetik. 00 33 ...
e-imd - Diagnosis
http://www.e-imd.org/en/healthcare-professionals/diagnosis/index.phtml
Laboratory services linked to partners. Glutaric aciduria type 1 (GA1). Urea cycle defects (UCDs). European proposed guidelines using SIGN methodology. To make the diagnosis of an OAD or a UCD can be very simple in some patients but extremely laborious in others. There are few metabolites which are highly specific for single disorders and if these can be identified, the diagnosis is almost certain. Examples are:. Can be found on this website. In blood: ammonia, amino acids, acylcarnitines. E-IMD - www...
e-imd - General introduction
http://www.e-imd.org/en/healthcare-professionals/introduction/index.phtml
Laboratory services linked to partners. Glutaric aciduria type 1 (GA1). Urea cycle defects (UCDs). European proposed guidelines using SIGN methodology. UCDs) and organic acidurias. Early-onset and late-onset clinical presentations may be observed. Advanced diagnostic explorations which may add to the routine laboratory data comprise determination of urinary organic acids, acylcarnitines on dried blood spot (which are also used for newborn screening), amino acid chromatography and carnitine profile.
e-imd
http://www.e-imd.org/newsletter.phtml
Subscribe to the newsletter :. Unsubscribe to the newsletter :. E-IMD - www.e-imd.net.
TOTAL PAGES IN THIS WEBSITE
18
Partnerships | Recordati Rare Diseases Academy
http://www.rrd-foundation.org/en/content/partnerships
Skip to main content. Recordati Rare Diseases Academy. Advancing knowledge in rare diseases:. Independent, professional, education and training. Who is the Foundation for? What do participants say about our courses? E-IMD is the European registry and network for intoxication type metabolic diseases. Its aim is to promote health for individuals affected with an organic aciduria (OAD) or with a urea cycle defect (UCD). E-IMD has partnered with the Foundation for its training and education activities.
Useful links - Acesia Pharmaceuticals - HCP's
http://www.mdacesia.com/useful-links/healthcare-professionals-18
Products per therapeutic category. Sourcing Innovation - Providing Result. The portal for rare diseases and orphan drugs. The Voice of Rare Disease Patients in Europe. International Rare Diseases Research Consortium. Society for the study of inborn errors of metabolism. US Food and Drug Administration. RareConnect a partnership of eurordis and nord. Connecting Rare Disease Patients Globally. National Organization for Medicines. Institute of Pharmaceutical Research and Technology. 15343, Athens, GREECE.
PND foreningen
http://pnd-foreningen.dk/links
Vi er en del af Sjældne Diagnosers paraplyorganisation, på deres hjemmeside kan der læses mere om deres arbejde, fokusområder mm. Som tidligere nævnt, har Linn startet en fælles blog med et par PKU mødre, hvor der bl.a. bliver lagt lavproteinopskrifter op. Det er tanken at der på sigt kommer til at ligge forskellige sager op på bloggen, herunder forholdet til søskende, erfaringer med institutioner og tips og tricks i al almindelighed. PND foreningen pndforeningen@gmail.com.
Useful links - Acesia Pharmaceuticals - Patients
http://www.mdacesia.com/useful-links/patients-13
Products per therapeutic category. Sourcing Innovation - Providing Result. The portal for rare diseases and orphan drugs. The Voice of Rare Disease Patients in Europe. International Rare Diseases Research Consortium. Society for the study of inborn errors of metabolism. US Food and Drug Administration. RareConnect a partnership of eurordis and nord. Connecting Rare Disease Patients Globally. National Organization for Medicines. Institute of Pharmaceutical Research and Technology. 15343, Athens, GREECE.
Aismme: Associazione Italiana Sostegno Malattie Metaboliche Ereditarie - Onlus
http://www.aismme.org/index.asp
Screening Neonatale Metabolico Allargato. Progetto Verona per le Malattie Metaboliche Ereditarie. Roby Facchinetti per Aismme. Sensibilizzazione allo Screening neonatale. Dona il tuo 5 per mille ad Aismme Onlus. A te non costa nulla, ma per noi può fare molto. Progetto Verona per le Malattie Metaboliche Ereditarie. Screening Neonatale Metabolico Allargato (Screening Neonatale Esteso). Cos’è, quali sono le malattie identificabili, info per le famiglie. Progetto Verona per le Malattie Metaboliche Ereditarie.
Useful links - Acesia Pharmaceuticals - HCP's
http://www.acesia.gr/useful-links/healthcare-professionals-18
Products per therapeutic category. Sourcing Innovation - Providing Result. The portal for rare diseases and orphan drugs. The Voice of Rare Disease Patients in Europe. International Rare Diseases Research Consortium. Society for the study of inborn errors of metabolism. US Food and Drug Administration. RareConnect a partnership of eurordis and nord. Connecting Rare Disease Patients Globally. National Organization for Medicines. Institute of Pharmaceutical Research and Technology. 15343, Athens, GREECE.
Useful links - Acesia Pharmaceuticals - Patients
http://www.acesia.gr/useful-links/patients-13
Products per therapeutic category. Sourcing Innovation - Providing Result. The portal for rare diseases and orphan drugs. The Voice of Rare Disease Patients in Europe. International Rare Diseases Research Consortium. Society for the study of inborn errors of metabolism. US Food and Drug Administration. RareConnect a partnership of eurordis and nord. Connecting Rare Disease Patients Globally. National Organization for Medicines. Institute of Pharmaceutical Research and Technology. 15343, Athens, GREECE.
External Links | Medunik Canada
https://www.medunikcanada.com/en/external-links
News and Press releases. Dedicated to treating rare diseases. Caring for Canadians in need of orphan therapies. Bring to Canada new rare disease treatment options. Determined to improving the health and life of people living with rare diseases. Medunik Canada Fact Sheet. Urea Cycle Disorders (UCD). Medunik Canada : Interviews. Medunik Canada : Presentations. Alliance maladies rares (in French only). Canadian Inherited Metabolic Diseases Research Network. Canadian Organization for Rare Disorders. Portail ...
Hyperammonaemia due to NAGS, IVA, MMA or PPA | Orphan Europe
http://www.orphan-europe.com/patients-and-families/hyperammonaemia-due-nags-iva-mma-or-ppa
Skip to main content. Big thinking for people with rare diseases. A growing international presence. At the forefront of rare disease policy. Hyperammonaemia due to NAGS, IVA, MMA or PPA. Vitamin E deficiency in chronic cholestasis. Foods for Special Medical Purposes. Urea Cycle Disorders Consortium. Orphan Europe Volunteer Programme. Support to patient organisations. Compliance - our guiding principles. Hyperammonaemia due to NAGS, IVA, MMA or PPA. Organic acidaemias (IVA, MMA or PPA). Babies with hypera...
Partners - E-HOD - European Network and Registry for Homocystinurias and Methylation Defects
http://www.e-hod.org/partners
European Network and Registry for Homocystinurias and Methylation Defects. E-HOD adds value to the existing E-IMD. Project by using the same registry technology and network. In addition to the funded partners, there are unfunded collaborating partners. They benefit from access to the registry, workshops, meetings and information resources being developed by E-HOD, and their activities extend the reach of the project beyond the funded partners. Patient support groups, industry and other. Tel: 43 55 744 010.
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e-imd
Improving the quality of diagnosis, information, research and treatment for individuals affected with an organic aciduria (OAD) or with a urea cycle defect (UCD). For patients, parents and family. Laboratory services linked to partners. Glutaric aciduria type 1 (GA1). Urea cycle defects (UCDs). European proposed guidelines using SIGN methodology. E-IMD research / publication proposal. FINAL REPORT Summary for publication dissemination. E-IMD - www.e-imd.net.
e-imd
Improving the quality of diagnosis, information, research and treatment for individuals affected with an organic aciduria (OAD) or with a urea cycle defect (UCD). For patients, parents and family. Laboratory services linked to partners. Glutaric aciduria type 1 (GA1). Urea cycle defects (UCDs). European proposed guidelines using SIGN methodology. E-IMD research / publication proposal. FINAL REPORT Summary for publication dissemination. E-IMD - www.e-imd.net.
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