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Pyruvate Kinase Deficiency

What is Pyruvate Kinase Deficiency?

 

An description of Pyruvate Kinase Deficiency has not been added yet.
Acknowledgement of Pyruvate Kinase Deficiency has not been added yet.
0.4http://www.orpha.net
Synonyms for Pyruvate Kinase Deficiency has not been added yet.
it's a congenital disease
hemolytic anemia with or without transfusion yellow skin and eyes iron overload caused by frequent transfusions
Diagnosis of Pyruvate Kinase Deficiency has not been added yet.
Diagnostic tests of Pyruvate Kinase Deficiency has not been added yet
Treatments of Pyruvate Kinase Deficiency has not been added yet.
Prognosis of Pyruvate Kinase Deficiency has not been added yet.
Tips or Suggestions of Pyruvate Kinase Deficiency has not been added yet.
References of Pyruvate Kinase Deficiency has not been added yet.
Pyruvate Kinase Deficiency Created by KaraC
Last updated 5 Jan 2016, 07:36 PM

Posted by KaraC
28 Dec 2015, 05:05 PM

Hi! I am an adult living with PK deficiency. If you are looking to connect with other patients and families living with this rare blood disorder please join our Facebook group. https://www.facebook.com/groups/50217858779/ Also, if you are looking for more information about living with PK Deficiency, please visit the website created by 5 adults who have been living with PKD. http://pyruvatekinasedeficiency.com/ You will find both of these resources to be very helpful! :)

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Community Resources
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Pyruvate Kinase Deficiency - Understanding and Living with PKD

This is a patient created website to help provide support and information to those living with Pyruvate Kinase Deficiency.

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Pyruvate Kinase Deficiency

Created by KaraC | Last updated 5 Jan 2016, 07:36 PM


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