Rett syndrome ( MECP2 ) and succinic semialdehyde dehydrogenase ( ALDH5A1 ) deficiency in a developmentally delayed female-Reference-Cited by-同舟云学术

Rett syndrome ( MECP2 ) and succinic semialdehyde dehydrogenase ( ALDH5A1 ) deficiency in a developmentally delayed female

Published:2019-03-04 Issue:5 Volume:7 Page:e629
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Brown Madalyn¹,Ashcraft Paula²,Arning Erland²,Bottiglieri Teodoro²,McClintock William³,Giancola Frank⁴,Lieberman David⁵,Hauser Natalie S.⁶,Miller Rebecca⁶,Roullet Jean‐Baptiste¹,Pearl Phillip⁵,Gibson K. Michael¹

Affiliation:

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

2. Baylor Scott & White Research Institute Institute of Metabolic Disease Dallas Texas

3. Pediatric Specialists of Virginia Fairfax Virginia

4. Pediatric Care of Northern Virginia Manassas Virginia

5. Department of Neurology Boston Children’s Hospital Harvard School of Medicine Boston Massachusetts

6. Fulgent Genetics Temple City California

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.629

Reference24 articles.

1. Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment

2. Altered Development of Glutamate and GABA Receptors in the Basal Ganglia of Girls with Rett Syndrome

3. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

4. Defective GABAergic neurotransmission in the nucleus tractus solitarius in Mecp2-null mice, a model of Rett syndrome

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