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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Main Authors: Camille S. Corre (Author), Dietrich Matern (Author), Joan E. Pellegrino (Author), Carlos A. Saavedra-Matiz (Author), Joseph J. Orsini (Author), Robert Thompson-Stone (Author)
Format: Book
Published: MDPI AG, 2021-05-01T00:00:00Z.
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3rd Floor Main Library

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