A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment.

Journal

bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
03 Feb 2023
Historique:
pubmed: 14 2 2023
medline: 14 2 2023
entrez: 13 2 2023
Statut: epublish

Résumé

Combined D, L-2-Hydroxyglutaric Aciduria (D,L-2HGA) is a rare genetic disorder caused by recessive mutations in the

Identifiants

DOI: 10.1101/2023.02.02.526527 PMID: 36778323 PMC: PMC9915603
pubmed: 36778323
doi: 10.1101/2023.02.02.526527
pmc: PMC9915603
pii:
doi:

Types de publication

Preprint

Langues

eng

Auteurs

Yu Leng Phua (YL)

Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Department of Pathology, Clinical Biochemical Genetics Laboratory, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.

Olivia M D'Annibale (OM)

Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA.

Anuradha Karunanidhi (A)

Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

Al-Walid Mohsen (AW)

Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA.

Brian Kirmse (B)

Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.

Steven F Dobrowolski (SF)

Department of Pathology, Clinical Biochemical Genetics Laboratory, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

Jerry Vockley (J)

Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA.

Classifications MeSH