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What is the history of Sanfilippo Syndrome?

When was Sanfilippo Syndrome discovered? What is the story of this discovery? Was it coincidence or not?

History of Sanfilippo Syndrome
3 answers
Sanfilippo syndrome is named after Dr. Sylvester Sanfilippo who discovered the cause of this disease in 1963. He was able to identify that persons with this disorder are missing one of four specific enzymes essential for breaking down GAG, called heparan sulfate.

In the past, children with Sanfilippo Syndrome were often times misdiagnosed with Hunter or Hurler Syndromes. Today there are still many children misdiagnosed, with Autism added to the list of wrongly identified disorders.

Posted Jan 1, 2018 by Danielle 3160
Sylvester Sanfilippo discovered the disease

Posted Feb 25, 2019 by Patty Jesse 3000
Dr Sanfilippo first discovered it in 1986.

Posted Nov 3, 2019 by Anne-marie 2500

History of Sanfilippo Syndrome

Sanfilippo Syndrome life expectancy

What is the life expectancy of someone with Sanfilippo Syndrome?

6 answers
Celebrities with Sanfilippo Syndrome

Celebrities with Sanfilippo Syndrome

5 answers
Is Sanfilippo Syndrome hereditary?

Is Sanfilippo Syndrome hereditary?

6 answers
Is Sanfilippo Syndrome contagious?

Is Sanfilippo Syndrome contagious?

7 answers
ICD9 and ICD10 codes of Sanfilippo Syndrome

ICD10 code of Sanfilippo Syndrome and ICD9 code

5 answers
Natural treatment of Sanfilippo Syndrome

Is there any natural treatment for Sanfilippo Syndrome?

4 answers
Living with Sanfilippo Syndrome

Living with Sanfilippo Syndrome. How to live with Sanfilippo Syndrome?

4 answers
Sanfilippo Syndrome diet

Sanfilippo Syndrome diet. Is there a diet which improves the quality of lif...

5 answers

World map of Sanfilippo Syndrome

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Stories of Sanfilippo Syndrome

SANFILIPPO SYNDROME STORIES
Sanfilippo Syndrome stories
Emily was born a perfectly healthy, 8lb 12oz full term baby girl. She progressed typically until around 3.5yrs old we thought her speech should be a bit more developed than it was. She had also developed what we assumed to be ADHD. Em's first special...
Sanfilippo Syndrome stories
Abby was thought to have PDD-NOS until October of 2017 when she was diagnosed with Sanfilippo Syndrome-type A. She is 22 years old.
Sanfilippo Syndrome stories
Was 14 years old in 2005 when he gained his wings MPS/sanfilippo/type A
Sanfilippo Syndrome stories
Reagan was diagnosed at age 3 with MPS III A. Reagan has some hearing loss and speech delay. Reagan is currently involved in a Gene Replacement Therapy Trial.
Sanfilippo Syndrome stories
My daughter was diagnosed with Sanfillippo Syndrome 3 a month after my son passed away at the the age of 26 days old. He was on life support and we has to disconnect life support due to him needing a heart and lung transplant and his organs were fail...

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