Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report
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05 set 2022
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Categoria dell'articolo: Case report
Pubblicato online: 05 set 2022
Ricevuto: 14 feb 2022
Accettato: 01 ago 2022
DOI: https://doi.org/10.2478/joepi-2022-0003
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© 2022 Stella Mouskou, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Mouskou, Stella
Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
Anagnostopoulou, Katherine
Molecular Genetics Department, Genomedica S.A. Genetics LaboratoryPiraeus, Greece
Bikouli, Danae
Department of Pediatrics, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
Paramera, Efstathia
Neolab SA, Medical LaboratoryAthens, Greece
Papakonstantinou, Evangelos
Neolab SA, Medical LaboratoryAthens, Greece
Korona, Anastasia
Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
Ziaka, Vasiliki
Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
Mavrikou, Mirsini
Department of Pediatrics, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
Skouma, Anastasia
Newborn Screening Department, Institute of Child HealthAthens, Greece