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...

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Detalles Bibliográficos
Autores principales: Babiker, Mohamed O. E., Kurian, Manju A., Suleiman, Jehan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
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

Internet

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

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