Work

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

Year: 2023

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/s00439-023-02613-6

Authors: Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, Melissa L. DiBacco, Erland Arning, Alexander Rotenberg, Henry H. C. Lee, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mariarita Bertoldi, Phillip L. Pearl

Institutions: Boston Children's Hospital, Harvard University, Tel Aviv University, Washington State University Spokane, University of Verona, Baylor Scott & White Research Institute, Heidelberg University, University Hospital Heidelberg, Hospital Sant Joan de Déu Barcelona, Institut de Recerca Sant Joan de Déu

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research Center, Natural History of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD), a Heritable Disorder of GABA Metabolism

OpenAlex ID: W4388657280

FWCI: 2.527

Cites: 45

Cited by: 13

Related to: 10