Fast Facts: Aromatic L-Amino Decarboxylase Deficiency /
First identified in 1990, aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare, debilitating, inherited neurological disorder. The disease typically manifests in the first year of life and, although some patients have relatively mild phenotypes, most have severe, debilitating,...
Enregistré dans:
| Auteur principal: | |
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| Format: | Livre numérique |
| Langue: | Anglais |
| Publié: |
Basel :
S. Karger
2024.
Basel : |
| Accès en ligne: | Accès Université d'Orléans et IFPM |
| Note: |
Karger Fast Facts |
| Autres localisations: | Voir dans le Sudoc |
| Edition sous un autre format: | • Fast Facts: Aromatic L-Amino Decarboxylase Deficiency, 9783318072518 |
| Résumé: | First identified in 1990, aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare, debilitating, inherited neurological disorder. The disease typically manifests in the first year of life and, although some patients have relatively mild phenotypes, most have severe, debilitating, sometimes life-threatening, phenotypes. Timely and accurate diagnosis is vital for patients to benefit from emerging treatments to prevent neurological damage, especially given the availability of gene therapy. This book is intended to help all clinicians, but in particular neonatologists, pediatricians, and pediatric neurologists, become more familiar with AADC deficiency, including the diagnostic and therapeutic options for practicing physicians so that patients can receive the best possible clinical care |
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| Description: | Karger Fast Facts |
| ISBN: | 9783318073119 |
| Accès: | Accès libre pour tout établissements ou utilisateur ayant un compte sur la plateforme de l'éditeur |