Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism-Reference-Cited by-同舟云学术

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

Published:2020-11-11 Issue:1 Volume:9 Page:229-235
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Alghamdi Malak Ali¹²^ORCID,Alkhamis Waleed H.³,Jamjoom Dima Z.⁴,Al Khalifah Reem⁵,Alshammari Nawaf Rahi⁶,Alsumaili Khalid⁷,Arold Stefan T.⁸

Affiliation:

1. Medical Genetics Division Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia

2. Medical Genetics Division Department of Pediatrics King Saud University Medical city Riyadh Saudi Arabia

3. Department of Obstetrics and Gynecology King Saud University Medical City Riyadh Saudi Arabia

4. Department of Radiology and Medical Imaging College of Medicine King Saud University Riyadh Saudi Arabia

5. Pediatric Endocrinology Division Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia

6. Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia

7. Biochemical Genetic Division Department of Pathology College of Medicine King Saud University Riyadh Saudi Arabia

8. Division of Biological and Environmental Sciences and Engineering (BESE) King Abdullah University of Science and Technology (KAUST)Computational Bioscience Research Center (CBRC) Thuwal Saudi Arabia

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3504

Reference20 articles.

1. Inborn errors of GABA metabolism

2. Inherited disorders of gamma-aminobutyric acid metabolism and advances inALDH5A1mutation identification

3. Succinic semialdehyde dehydrogenase deficiency in children and adults

4. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

5. Inherited disorders of neurotransmitters in children and adults

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