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Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, neurometabolic disorder resulting from biallelic mutations in the dopa decarboxylase (DDC) gene. This is the first reported case of AADC deficiency in the United Arab Emirates (UAE) and describes an Emirati male patient who presented i...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468477/ https://www.ncbi.nlm.nih.gov/pubmed/36110109 http://dx.doi.org/10.3389/fped.2022.964201 |