Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause.
Saved in:
| Title: | Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause. |
|---|---|
| Authors: | Patel S; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America., Zain-Ul-Abideen M; Division of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America., Guyol G; Division of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America., Rodan LH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America., Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America., Ren AZ; Center for Fetal Medicine and Reproductive Genetics, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA., Connors P; Department of Obstetrics and Gynecology, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America., Davenport P; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America., Bartolome R; Division of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America., Sahai I; New England Newborn Screening Program, Department of Pediatrics UMass University Medical School, Worcester, MA 01605-2300, United States of America., Ganesh VS; Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States of America., Wojcik MH; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America. |
| Source: | Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 May 01; Vol. 43, pp. 101223. Date of Electronic Publication: 2025 May 01 (Print Publication: 2025). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
Be the first to leave a comment!
