Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.

Phillip L. Pearl,Melissa L. DiBacco,Christos Papadelis,Thomas Opladen,Ellen Hanson,Jean-Baptiste Roullet,K. Michael Gibson

Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.

2021

Phillip L. Pearl
Melissa L. DiBacco
Christos Papadelis
Thomas Opladen
Ellen Hanson
Jean-Baptiste Roullet
K. Michael Gibson

Objective:The SSADHD Natural History Study was initiated in 2019 to define the natural course and identify biomarkers correlating with severity.Methods:The study is conducted by 4 institutions: BCH...

Keywords:

natural course
Succinic semialdehyde dehydrogenase deficiency
Intellectual disability
Epilepsy
Bioinformatics
Natural history study
Medicine

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