Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency-Reference-Cited by-同舟云学术

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Published:2024-05 Issue:1 Volume:142 Page:108363
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tokatly Latzer Itay,Bertoldi Mariarita,Blau Nenad,DiBacco Melissa L.,Elsea Sarah H.,García-Cazorla Àngels,Gibson K. Michael,Gropman Andrea L.,Hanson Ellen,Hoffman Carolyn,Jeltsch Kathrin,Juliá-Palacios Natalia,Knerr Ina,Lee Henry H.C.,Malaspina Patrizia,McConnell Alice,Opladen Thomas,Oppebøen Mari,Rotenberg Alexander,Walterfang Mark,Wang-Tso Lee,Wevers Ron A.,Roullet Jean-Baptiste,Pearl Phillip L.

Funder

Boston Childrens Hospital

NICHD

Publisher

Elsevier BV

Reference143 articles.

1. Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification;Pearl;Dev. Med. Child Neurol.,2015

2. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency;Pearl;Neurology,2009

3. Understanding the molecular mechanisms of succinic Semialdehyde dehydrogenase deficiency (SSADHD): towards the development of SSADH-targeted medicine;Lee;Int. J. Mol. Sci.,2022

4. Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants;Tokatly Latzer;Hum Genet,2023

5. Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency;Tokatly Latzer;J Inherit Metab Dis,2023

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency;International Journal of Molecular Sciences;2024-05-11

2. Inherited Metabolic Disorders of Neurotransmitters;Reference Module in Neuroscience and Biobehavioral Psychology;2024