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Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report

Stella Mouskou

Stella Mouskou

Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Mouskou, Stella
, 
Katherine Anagnostopoulou

Katherine Anagnostopoulou

Molecular Genetics Department, Genomedica S.A. Genetics LaboratoryPiraeus, Greece
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Anagnostopoulou, Katherine
, 
Danae Bikouli

Danae Bikouli

Department of Pediatrics, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Bikouli, Danae
, 
Efstathia Paramera

Efstathia Paramera

Neolab SA, Medical LaboratoryAthens, Greece
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Paramera, Efstathia
, 
Evangelos Papakonstantinou

Evangelos Papakonstantinou

Neolab SA, Medical LaboratoryAthens, Greece
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Papakonstantinou, Evangelos
, 
Anastasia Korona

Anastasia Korona

Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Korona, Anastasia
, 
Vasiliki Ziaka

Vasiliki Ziaka

Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Ziaka, Vasiliki
, 
Mirsini Mavrikou

Mirsini Mavrikou

Department of Pediatrics, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Mavrikou, Mirsini
 and 
Anastasia Skouma

Anastasia Skouma

Newborn Screening Department, Institute of Child HealthAthens, Greece
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Skouma, Anastasia
  
Sep 05, 2022
Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report's Cover Image
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Article Category: Case report
Published Online: Sep 05, 2022
Received: Feb 14, 2022
Accepted: Aug 01, 2022
DOI: https://doi.org/10.2478/joepi-2022-0003
Keywords
© 2022 Stella Mouskou, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Clinical Medicine, Clinical Medicine, other, Neurology, Pharmacology, Toxicology, Pharmacy, Clinical Pharmacy
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