Updates

August 12, 2020August 12, 2020
How to Prepare for a Lumbar Puncture in AADC Deficiency

If your child’s doctor suspects aromatic L-amino acid decarboxylase (AADC) deficiency, they may recommend a lumbar puncture (also called a spinal tap) to help diagnose ... Read more
August 11, 2020August 11, 2020
New Streaming Channel Showcases Rare Disease Films

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a ... Read more
August 5, 2020August 5, 2020
Oculogyric Crises in AADC Deficiency

One of the symptoms of aromatic L‐amino acid decarboxylase (AADC) deficiency are oculogyric crises, which can be frightening for patients and their parents and ... Read more
August 4, 2020August 4, 2020
Urine Test May Help Diagnose AADC Deficiency, Study Says

A simple urine test using widely available methods may help diagnose people with aromatic L-amino acid decarboxylase (AADC) deficiency, a study reports. The study, ... Read more
July 29, 2020July 29, 2020
Vaccines and AADC Deficiency

Parents or caregivers of children with aromatic L-amino acid decarboxylase (AADC) deficiency may be wondering whether vaccines are safe for these patients. What are ... Read more

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Updates

How to Prepare for a Lumbar Puncture in AADC Deficiency

New Streaming Channel Showcases Rare Disease Films

Oculogyric Crises in AADC Deficiency

Urine Test May Help Diagnose AADC Deficiency, Study Says

Vaccines and AADC Deficiency

About the AADC Diagnostic Testing Program

AADC Community Invited to Submit Works to 2020 Rare Artist Contest

Traveling Safely With a Child Who Has AADC Deficiency

Non-invasive Urine Test May Help in AADC Deficiency Diagnosis, Case Report Says

Genetic Counseling for Families Affected by AADC Deficiency

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What Is Genetic Testing and How Can It Help Diagnose AADC Deficiency?

Reproductive Options for AADC Deficiency Carriers

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

Will Another Child of Mine Have AADC Deficiency?

4 Cerebrospinal Fluid Biomarkers May Aid Diagnosis, Study Says

Coalition Will Address Racial Disparities in Rare Disease Communities

Newborn Screening and AADC Deficiency

Study Characterizes Largest Group of AADC Deficiency Patients in Mainland China

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

Clinical Trials and AADC Deficiency

AADC Patients Experience Severe Symptoms from Infancy to Adulthood, Study Reveals

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Anesthesia and AADC Deficiency

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

What’s a Dystonic Crisis with AADC Deficiency, and How to Deal With It?

PTC Therapeutics to Seek FDA Approval of AADC Gene Therapy

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

Medications to Avoid in AADC Deficiency

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

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How to Prepare for a Lumbar Puncture in AADC Deficiency

New Streaming Channel Showcases Rare Disease Films

Oculogyric Crises in AADC Deficiency

Urine Test May Help Diagnose AADC Deficiency, Study Says

Vaccines and AADC Deficiency

About the AADC Diagnostic Testing Program

AADC Community Invited to Submit Works to 2020 Rare Artist Contest

Traveling Safely With a Child Who Has AADC Deficiency

Non-invasive Urine Test May Help in AADC Deficiency Diagnosis, Case Report Says

National Survey Seeks to Assess Full Social, Economic Burdens of Rare Diseases in US

Genetic Counseling for Families Affected by AADC Deficiency

Subscribe to our mailing list

What Is Genetic Testing and How Can It Help Diagnose AADC Deficiency?

Reproductive Options for AADC Deficiency Carriers

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

Will Another Child of Mine Have AADC Deficiency?

4 Cerebrospinal Fluid Biomarkers May Aid Diagnosis, Study Says

Coalition Will Address Racial Disparities in Rare Disease Communities

What is the iNTD and Its Patient Registry?

Newborn Screening and AADC Deficiency

Study Characterizes Largest Group of AADC Deficiency Patients in Mainland China

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

Clinical Trials and AADC Deficiency

AADC Patients Experience Severe Symptoms from Infancy to Adulthood, Study Reveals

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Anesthesia and AADC Deficiency

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

What’s a Dystonic Crisis with AADC Deficiency, and How to Deal With It?

PTC Therapeutics to Seek FDA Approval of AADC Gene Therapy

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

Medications to Avoid in AADC Deficiency

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

Pin It on Pinterest