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Sanfilippo Syndrome

What is Sanfilippo Syndrome?

Sanfilippo Syndrome is a rare autosomal recessive metabolic disorder characterized by severe neurological symptoms.

 

Sanfilippo Syndrome is a rare autosomal recessive metabolic disorder characterized by severe neurological symptoms.
Acknowledgement of Sanfilippo Syndrome has not been added yet.
1.1http://www.orpha.net
Synonyms for Sanfilippo Syndrome has not been added yet.
Cause of Sanfilippo Syndrome has not been added yet.
There are several symptoms that affect people with Mucopolysaccharidosis type 3.
Name Description
Progressive dementia Progressive dementia
Aggressive behavior Aggressive behavior
Hyperactivity Hyperactivity
Seizures Seizures
Diagnosis of Sanfilippo Syndrome has not been added yet.
Diagnostic tests of Sanfilippo Syndrome has not been added yet
Treatments of Sanfilippo Syndrome has not been added yet.
Prognosis of Sanfilippo Syndrome has not been added yet.
Tips or Suggestions of Sanfilippo Syndrome has not been added yet.
References of Sanfilippo Syndrome has not been added yet.
Cure Sanfilippo Foundation Created by RareshareTeam
Last updated 29 Jul 2018, 03:56 PM

Posted by RareshareTeam
29 Jul 2018, 03:56 PM

When Eliza O'Neill was diagnosed with Sanfilippo Syndrome, her family started their own nonprofit.  So far, the Cure Sanfilippo Foundation has raised over $5.5 million to combat the rare genetic disease.  Read their story here.

SANFILIPPO MOTHER EXPERT Created by CECILIA
Last updated 3 Nov 2009, 08:24 PM

Posted by Pattyt
3 Nov 2009, 08:24 PM

Cecilia, You are too kind. Thank you for your kind words. I am sure there are many experts out there, they have just not found their way here yet. My best to you and Fiorella. In Love, Patty

Posted by CECILIA
2 Nov 2009, 05:21 AM

Thanks God, I found Patty, Jesse s mother as soon as Fiorella my daughter was diagnosticated by MPS III A Sanfilippo s syndrome, same than him, and she is my guide and my hope resources. So, I suggest to name her OUR SANFILIPPO LEADER !!!!!! Also, if anyone has new info about this disorder....thanks a lot,CECILIA

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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.
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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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Cure Sanfilippo Foundation

Created by RareshareTeam | Last updated 29 Jul 2018, 03:56 PM

SANFILIPPO MOTHER EXPERT

Created by CECILIA | Last updated 3 Nov 2009, 08:24 PM


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