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Adenine Phosphoribosyltransferase Deficiency

What is Adenine Phosphoribosyltransferase Deficiency?

Adenine Phosphoribosyltransferase Deficiency is a rare genetic disorder that may cause kidney stones and possibly kidney failure.

 

Adenine Phosphoribosyltransferase Deficiency is a rare genetic disorder that may cause kidney stones and possibly kidney failure.
Acknowledgement of Adenine Phosphoribosyltransferase Deficiency has not been added yet.
Synonyms for Adenine Phosphoribosyltransferase Deficiency has not been added yet.
Cause of Adenine Phosphoribosyltransferase Deficiency has not been added yet.
Symptoms for Adenine Phosphoribosyltransferase Deficiency has not been added yet.
Urine microscopy Analysis of APRT activity in red cell lysates Stone analysis using infrared spectrophotometry or x-ray crystallography Kidney biopsy DNA mutation analysis
Diagnostic tests of Adenine Phosphoribosyltransferase Deficiency has not been added yet
Treatments of Adenine Phosphoribosyltransferase Deficiency has not been added yet.
Prognosis of Adenine Phosphoribosyltransferase Deficiency has not been added yet.
Tips or Suggestions of Adenine Phosphoribosyltransferase Deficiency has not been added yet.
References of Adenine Phosphoribosyltransferase Deficiency has not been added yet.
Join us on Facebook! Created by hildalinnet
Last updated 3 Oct 2011, 11:20 AM

Posted by hildalinnet
3 Oct 2011, 11:20 AM

For more information on APRT Deficiency, the international registry and patient support, join us on Facebook.com! http://www.facebook.com/pages/APRT-Deficiency-and-Dihydroxyadeninuria/220341628011379

Join us on Facebook! Created by hildalinnet
Last updated 3 Oct 2011, 11:14 AM

Posted by hildalinnet
3 Oct 2011, 11:14 AM

For more information on APRT Deficency, the international registry and patient support, join us on Facebook.com! http://www.facebook.com/pages/APRT-Deficiency-and-Dihydroxyadeninuria/220341628011379

The International APRT Deficiency Registry Created by hildalinnet
Last updated 2 Oct 2011, 11:34 AM

Posted by hildalinnet
2 Oct 2011, 11:34 AM

The Rare Kidney Stone Consortium was established to facilitate cooperative exchange of information among clinicians, patients and investigators to improve care and outcome for patients with rare stone diseases. If you or a family member is affected by APRT Deficiency, we would like your help! Please contact us at rarekidneystones@landspitali.is to participate in the International APRT Deficiency/Dihydroxyadeninuria Registry. The International APRT Deficiency Registry has been established by the Rare Kidney Stone Consortium. Information collected in this registry will increase clinical and research-based understanding of the disease in a manner that no single center could do alone.

Community External News Link
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Title Description Date Link
APRT at the Rare Kidney Stone Consortium

03/20/2017

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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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Created by hildalinnet | Last updated 3 Oct 2011, 11:20 AM

Join us on Facebook!

Created by hildalinnet | Last updated 3 Oct 2011, 11:14 AM

The International APRT Deficiency Registry

Created by hildalinnet | Last updated 2 Oct 2011, 11:34 AM


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