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Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

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Title: Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.
Authors: Schwahn BC; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Berry GT; Division of Genetics and Genomics Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Vernon HJ; Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Li H; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Merritt Ii JL; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Schiff M; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Filière G2m, MetabERN, Paris, France.; INSERM UMRS_1163, Institut Imagine, Paris, France., Chabrol B; Reference Center for Inherited Metabolic Disorders, Assistance Publique Hôpitaux de Marseille, Centre Hospitalier Universitaire de La Timone Enfants, Filière G2m, MetabERN, Marseille, France., De Las Heras J; Hereditary Metabolic Diseases Unit at Hospital Universitario Cruces (CIBER-ER), Bio-Bizkaia Health Research Institute, University of the Basque Country (UPV/EHU), Barakaldo, Spain., Vockley J; Division Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA., Lee C; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA., Koeberl DD; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Burton BK; Ann & Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Grunewald S; Great Ormond Street Hospital for Children and Institute of Child Health, NIHR Biomedical Research Center, London, UK., Diaz GA; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Ficicioglu C; Children Hospital of Philadelphia, Philadelphia, PA, USA., Morgan T; Vanderbilt University School of Medicine, Nashville, TN, USA.; West Virginia University School of Medicine, Morgantown, WV, USA., Luo J; Moderna, Inc., Cambridge, MA, USA., Attarwala H; Moderna, Inc., Cambridge, MA, USA., Liang M; Moderna, Inc., Cambridge, MA, USA., Perera S; Moderna, Inc., Cambridge, MA, USA. sue.perera@modernatx.com., Sikirica V; Moderna, Inc., Cambridge, MA, USA.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Mar 09; Vol. 21 (1). Date of Electronic Publication: 2026 Mar 09.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Schwahn+BC%22">Schwahn BC</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Berry+GT%22">Berry GT</searchLink>; Division of Genetics and Genomics Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Vernon+HJ%22">Vernon HJ</searchLink>; Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Li+H%22">Li H</searchLink>; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Merritt+Ii+JL%22">Merritt Ii JL</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Schiff+M%22">Schiff M</searchLink>; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Filière G2m, MetabERN, Paris, France.; INSERM UMRS_1163, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Chabrol+B%22">Chabrol B</searchLink>; Reference Center for Inherited Metabolic Disorders, Assistance Publique Hôpitaux de Marseille, Centre Hospitalier Universitaire de La Timone Enfants, Filière G2m, MetabERN, Marseille, France.<br /><searchLink fieldCode="AU" term="%22De+Las+Heras+J%22">De Las Heras J</searchLink>; Hereditary Metabolic Diseases Unit at Hospital Universitario Cruces (CIBER-ER), Bio-Bizkaia Health Research Institute, University of the Basque Country (UPV/EHU), Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Vockley+J%22">Vockley J</searchLink>; Division Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Lee+C%22">Lee C</searchLink>; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Koeberl+DD%22">Koeberl DD</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Burton+BK%22">Burton BK</searchLink>; Ann & Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Grunewald+S%22">Grunewald S</searchLink>; Great Ormond Street Hospital for Children and Institute of Child Health, NIHR Biomedical Research Center, London, UK.<br /><searchLink fieldCode="AU" term="%22Diaz+GA%22">Diaz GA</searchLink>; Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Ficicioglu+C%22">Ficicioglu C</searchLink>; Children Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Morgan+T%22">Morgan T</searchLink>; Vanderbilt University School of Medicine, Nashville, TN, USA.; West Virginia University School of Medicine, Morgantown, WV, USA.<br /><searchLink fieldCode="AU" term="%22Luo+J%22">Luo J</searchLink>; Moderna, Inc., Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Attarwala+H%22">Attarwala H</searchLink>; Moderna, Inc., Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Liang+M%22">Liang M</searchLink>; Moderna, Inc., Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Perera+S%22">Perera S</searchLink>; Moderna, Inc., Cambridge, MA, USA. sue.perera@modernatx.com.<br /><searchLink fieldCode="AU" term="%22Sikirica+V%22">Sikirica V</searchLink>; Moderna, Inc., Cambridge, MA, USA.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Mar 09; Vol. 21 (1). <i>Date of Electronic Publication: </i>2026 Mar 09.
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