Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report
Authors
Stella Mouskou
Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s Hospital, Athens, Greece
Katherine Anagnostopoulou
Molecular Genetics Department, Genomedica S.A. Genetics Laboratory, Piraeus, Greece
Danae Bikouli
Department of Pediatrics, ‘P. & Aglaia Kyriakou’ Children’s Hospital, Athens, Greece
Efstathia Paramera
Neolab SA, Medical Laboratory, Athens, Greece
Evangelos Papakonstantinou
Neolab SA, Medical Laboratory, Athens, Greece
Anastasia Korona
Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s Hospital, Athens, Greece
Vasiliki Ziaka
Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s Hospital, Athens, Greece
Mirsini Mavrikou
Department of Pediatrics, ‘P. & Aglaia Kyriakou’ Children’s Hospital, Athens, Greece
Anastasia Skouma
Newborn Screening Department, Institute of Child Health, Athens, Greece
Language: English
Submitted on: Feb 14, 2022
Accepted on: Aug 1, 2022
Published on: Sep 5, 2022
Published by: The Foundation of Epileptology
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
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© 2022 Stella Mouskou, Katherine Anagnostopoulou, Danae Bikouli, Efstathia Paramera, Evangelos Papakonstantinou, Anastasia Korona, Vasiliki Ziaka, Mirsini Mavrikou, Anastasia Skouma, published by The Foundation of Epileptology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.