Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2019
|
| Materias: | |
| 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 |