P017: Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns

• Lauren O'Grady,
• Nina Gold,
• Amel Karaa,
• Hana Zouk,
• Wei He,
• Emilie Zoltick,
• Inderneel Sahai,
• Emma Perez,
• Robert Green

Affiliations

Lauren O'Grady

Massachusetts General Hospital for Children, Division of Medical Genetics and Metabolism, Boston MA

Nina Gold

Massachusetts General Hospital for Children, Division of Medical Genetics and Metabolism, Boston MA

Amel Karaa

Massachusetts General Hospital, Harvard Medical School

Hana Zouk

Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine, Mass General Hospital

Wei He

Massachusetts General Hospital, Division of General Internal Medicine, Harvard Pilgrim Health Care Institute

Emilie Zoltick

Harvard Medical School

Inderneel Sahai

Massachusetts General Hospital for Children, Division of Medical Genetics and Metabolism, Boston MA

Emma Perez

Brigham and Women’s Hospital, Mass General Brigham Personalized Medicine, Boston MA

Robert Green

Mass General Brigham, Broad Institute, Ariadne Labs and Harvard Medical School