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

• Autori principali: Camille S. Corre (Autore), Dietrich Matern (Autore), Joan E. Pellegrino (Autore), Carlos A. Saavedra-Matiz (Autore), Joseph J. Orsini (Autore), Robert Thompson-Stone (Autore)
• Natura: Libro
• Pubblicazione: MDPI AG, 2021-05-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...