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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Pubblicato in:Int J Neonatal Screen
Autori principali: Corre, Camille S., Matern, Dietrich, Pellegrino, Joan E., Saavedra-Matiz, Carlos A., Orsini, Joseph J., Thompson-Stone, Robert
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2021
Soggetti:
Case Report
Accesso online: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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