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

• Principais autores: Camille S. Corre (Autor), Dietrich Matern (Autor), Joan E. Pellegrino (Autor), Carlos A. Saavedra-Matiz (Autor), Joseph J. Orsini (Autor), Robert Thompson-Stone (Autor)
• Formato: Livro
• Publicado em: MDPI AG, 2021-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...