Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one ... Read more
Updates
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Lumbar Puncture Can Help Diagnose AADC
A lumbar puncture (also called a spinal tap) is a test that can help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is ... Read more -
Study Suggests New Function for AADC, the Enzyme Missing in AADC Deficiency
Aromatic L-amino acid decarboxylase (AADC), the enzyme deficient in patients with AADC deficiency, also is involved in the process of viral infections, a new ... Read more -
5 Tips for Making Every Doctor Visit Count When Your Child Has AADC Deficiency
Effectively managing your child’s aromatic l-amino acid decarboxylase (AADC) deficiency can be challenging. Here are 5 tips for making the most of your doctor ... Read more -
FAQs in AADC
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare disease with about 100 people in the world diagnosed with it. Because the disease is ... Read more
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Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, ... -
Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of ... -
Gene Therapy Shows Promise for AADC Deficiency But Requires Early Diagnosis, Study Says
Early clinical trials of a gene therapy for aromatic amino acid decarboxylase (AADC) deficiency ... -
European Initiative Targets Diagnosis, Treatment of Rare Diseases
A new international consortium based in Paris, and funded largely by the 28-member European ... -
Gene Variant Linked to Worse Physical Symptoms, May Have Implications for AADC Deficiency, Study Suggests
A genetic variant of DDC, the gene encoding L-aromatic amino acid decarboxylase (AADC), contributes ... -
Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow ...
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