Age-related phenotype and biomarker changes in SSADH deficiency
Author:
Affiliation:
1. Department of Neurology; Boston Children's Hospital; Harvard Medical School; Boston Massachusetts
2. Department of Pharmacotherapy; College of Pharmacy and Pharmaceutical Sciences; Washington State University; Spokane Washington
Funder
Boston Intellectual and Development Disabilities Research Center
Publisher
Wiley
Subject
Neurology (clinical),General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/acn3.696/fullpdf
Reference22 articles.
1. Succinic semialdehyde dehydrogenase deficiency in children and adults;Pearl;Ann Neurol,2003
2. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency;Pearl;Neurology,2003
3. Inherited disorders of neurotransmitters in children and adults;Pearl;Clin Biochem,2005
4. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria);Gibson;Biol Psychiatry,2003
5. Natural history of succinic semialdehyde dehydrogenase deficiency;Lapalme-Remis;Neurology,2015
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3. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder;Journal of Neurodevelopmental Disorders;2024-04-24
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