Carregant...
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...
Guardat en:
| Publicat a: | Int J Neonatal Screen |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2021
|
| Matèries: | |
| Accés en línia: | 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 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|