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ADSL Deficiency Research

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Hello All! We are parents of kids with  Adenylosuccinate lyase (ADSL) deficiency, a rare inborn error of metabolism.


The disease was first described in 1984, and leads to profound developmental delay and, in up to 30% of cases, autistic features. Currently, over 30 mutations in ADSL are known to cause ADSL deficiency. The clinical picture in these individuals can vary widely, and include seizures, cortical visual impairment, hypotonia.

Some of us have lost children to ADSL... And others will do eventually....

We need YOUR HELP to raise funds to support research being conducted by Professor David Patterson, from Denver University.  Click here for more info (Info)







Please help us to raise USD 20,000. 

You can make a donation using GOFUNDME or by bank transfer:

For people in the United States, the bank is JPMorgan Chase
Account # 000000636550228
Account name: Eleanor Roosevelt Institute for Cancer Research
Routing number: 021000021 indicate that it is for ADSL deficiency research

For people outside the United states;
Account # 000000636550228
Account name: Eleanor Roosevelt Institute for Cancer Research
Swift code: CHASUS33 indicate that it is for ADSL deficiency research

THANK YOU!




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Donations 

  • Anonymous
    • $50 
    • 5 yrs
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Organizer and beneficiary

Ana Carolina Kliemann Dutra
Organizer
David Patterson
Beneficiary

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