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:
| Hovedforfatter: | |
|---|---|
| Format: | Livre numérique |
| Sprog: | Anglais |
| Udgivet: |
Basel :
S. Karger
2024.
Basel : |
| Online adgang: | Accès Université d'Orléans et IFPM |
| Kommentar: |
Karger Fast Facts |
| Autres localisations: | Voir dans le Sudoc |
| Edition sous un autre format: | • Fast Facts: Aromatic L-Amino Decarboxylase Deficiency, 9783318072518 |
| LEADER | 01764nam a22002057a 4500 | ||
|---|---|---|---|
| 001 | 1461539 | ||
| 008 | 250606s2024 xx ||| |||| 00| 0 eng d | ||
| 009 | PPN28525524X | ||
| 020 | |a 9783318073119 | ||
| 041 | 0 | |a eng | |
| 100 | 1 | |a Brennenstuhl, Heiko. | |
| 245 | 1 | 0 | |a Fast Facts: Aromatic L-Amino Decarboxylase Deficiency / |c Heiko Brennenstuhl. |
| 260 | |a Basel : |b S. Karger. | ||
| 260 | |a Basel : |b S. Karger, |c 2024. | ||
| 500 | |a Karger Fast Facts | ||
| 506 | |a Accès libre pour tout établissements ou utilisateur ayant un compte sur la plateforme de l'éditeur | ||
| 520 | |a 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 | ||
| 776 | 0 | |t Fast Facts: Aromatic L-Amino Decarboxylase Deficiency |z 9783318072518 | |
| 856 | 4 | |5 452349901:889240973 |u https://ezproxy.univ-orleans.fr/login?url=https://karger.com/books/book/5999 |z Accès Université d'Orléans et IFPM | |
| 997 | |0 1461539 |1 Livre numérique |a Ressource numérique |b INSA |b ENSA |c 0/Bibliothèque numérique/ |c 1/Bibliothèque numérique/Autre ressource numérique/ | ||