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Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause.

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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
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PubType: Academic Journal
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  Data: Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause.
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  Data: <searchLink fieldCode="AU" term="%22Patel+S%22">Patel S</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.<br /><searchLink fieldCode="AU" term="%22Zain-Ul-Abideen+M%22">Zain-Ul-Abideen M</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.<br /><searchLink fieldCode="AU" term="%22Guyol+G%22">Guyol G</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.<br /><searchLink fieldCode="AU" term="%22Rodan+LH%22">Rodan LH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Genetti+CA%22">Genetti CA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ren+AZ%22">Ren AZ</searchLink>; Center for Fetal Medicine and Reproductive Genetics, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Connors+P%22">Connors P</searchLink>; Department of Obstetrics and Gynecology, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.<br /><searchLink fieldCode="AU" term="%22Davenport+P%22">Davenport P</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.<br /><searchLink fieldCode="AU" term="%22Bartolome+R%22">Bartolome R</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.<br /><searchLink fieldCode="AU" term="%22Sahai+I%22">Sahai I</searchLink>; New England Newborn Screening Program, Department of Pediatrics UMass University Medical School, Worcester, MA 01605-2300, United States of America.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States of America.<br /><searchLink fieldCode="AU" term="%22Wojcik+MH%22">Wojcik MH</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101624422%22">Molecular genetics and metabolism reports</searchLink> [Mol Genet Metab Rep] 2025 May 01; Vol. 43, pp. 101223. <i>Date of Electronic Publication: </i>2025 May 01 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101624422 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2214-4269 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222144269%22">22144269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab Rep <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1016/j.ymgmr.2025.101223
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              Text: 2025 May 01
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