MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN METHYLMALONIC ACIDEMIA DUE TO MUT DEFICIENCY
Year: 2023
Type: article
Authors: Manuel Schiff, Bernd C. Schwahn, Brigitte Chabrol, J. Lawrence Merritt, Jerry Vockley, Hilary Vernon, Gerard T. Berry, Saikat Santra, Chung Lee, Dwight Koeberl, Hong Li, Barbara Burton, Javier De las Heras, George Diaz, Mariana Faria-Urbina, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo
Institutions: Hôpital Necker-Enfants Malades, St Mary's Hospital, Hôpital de la Timone, Seattle Children's Hospital, University of Washington, University of Pittsburgh, Johns Hopkins University, Johns Hopkins Medicine, Boston Children's Hospital, Birmingham Children's Hospital, Lucile Packard Children's Hospital, Duke University, Duke Medical Center, Emory University, Children's Healthcare of Atlanta, Lurie Children's Hospital, Hospital de Cruces, Icahn School of Medicine at Mount Sinai, Moderna Therapeutics (United States), Cambridge Public School, Cambridge College
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W4322623201