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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Vydáno v:Int J Neonatal Screen
Hlavní autoři: Corre, Camille S., Matern, Dietrich, Pellegrino, Joan E., Saavedra-Matiz, Carlos A., Orsini, Joseph J., Thompson-Stone, Robert
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8162352/
https://ncbi.nlm.nih.gov/pubmed/34071213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns7020028
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