Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later in life. Newborn screening (NBS) for KD requires i...

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Bibliographic Details
Main Authors: Camille S. Corre, Dietrich Matern, Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Joseph J. Orsini, Robert Thompson-Stone
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Neonatal Screening
Subjects:
Krabbe disease
psychosine
newborn screening
Online Access:https://www.mdpi.com/2409-515X/7/2/28

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