Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review

Farber disease (FD) is an inherited autosomal recessive disorder of lipid metabolism. The hallmark of the disease is systemic accumulation of ceramide due to lysosomal acid ceramidase deficiency. The involvement of the central nervous system is critical in this disorder leading to rapid deterioratio...

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Detalles Bibliográficos
Autores principales: Goudie, Catherine, Alayoubi, Abdulfatah M., Tibout, Pauline, Duval, Michel, Maranda, Bruno, Mitchell, David, Mitchell, John J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498832/
https://www.ncbi.nlm.nih.gov/pubmed/31240154
http://dx.doi.org/10.1002/jmd2.12008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498832/
https://www.ncbi.nlm.nih.gov/pubmed/31240154
http://dx.doi.org/10.1002/jmd2.12008

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