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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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
MDPI AG
2021-05-01
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| Serier: | International Journal of Neonatal Screening |
| Fag: | |
| Online adgang: | https://www.mdpi.com/2409-515X/7/2/28 |
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