Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency-Reference-Cited by-同舟云学术

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

Published:2020-02-26 Issue:1 Volume:53 Page:29-38
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Brown Madalyn¹,Turgeon Coleman²,Rinaldo Piero²,Pop Ana³,Salomons Gajja S.³⁴,Roullet Jean‐Baptiste¹,Gibson K. Michael¹^ORCID

Affiliation:

1. Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences Washington State University Spokane Washington

2. Mayo Clinic, Department of Laboratory Medicine and Pathology Rochester Minnesota

3. Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism Amsterdam The Netherlands

4. Department of Genetic Metabolic Diseases, Amsterdam University Medical Centers University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism Amsterdam The Netherlands

Funder

National Institutes of Health

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12075

Reference42 articles.

1. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (Gamma-Hydroxybutyric aciduria)

2. Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder

3. Neuropsychiatric Morbidity in Adolescent and Adult Succinic Semialdehyde Dehydrogenase Deficiency Patients