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Article

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.

Molecular genetics and metabolism - 1 Jan 2000

Thompson-Stone Robert, Ream Margie A, Gelb Michael, Matern Dietrich, Orsini Joseph J, Levy Paul A, Rubin Jennifer P, Wenger David A, Burton Barbara K, Escolar Maria L, Kurtzberg Joanne

Abstract excerpt

OBJECTIVE: To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD). METHODS: KD experts (KD NBS Council) met between July 2017 and June 2020 to develop consensus-based classification and follow-up recommendations. The...

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PMID: 33832819
DOI: 10.1016/j.ymgme.2021.03.016

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