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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Camille S. Corre, Dietrich Matern, Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Joseph J. Orsini, Robert Thompson-Stone
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	MDPI AG 2021-05-01
Цуврал:	International Journal of Neonatal Screening
Нөхцлүүд:	Krabbe disease psychosine newborn screening
Онлайн хандалт:	https://www.mdpi.com/2409-515X/7/2/28
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!