Cargando…
An uncommon cause of early infantile liver disease and raised chitotriosidase
Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosomal acid lipase deficiency were normal. Niemann Pick type C (...
Autores principales: | Sreekantam, Srividya, Rizvi, Hina, Brown, Rachel, Santra, Saikat, Raiman, Julian, Vijay, Suresh, Mckiernan, Patrick J., Gupte, Girish L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358662/ https://www.ncbi.nlm.nih.gov/pubmed/32685346 http://dx.doi.org/10.1002/jmd2.12123 |
Ejemplares similares
-
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review
por: Sreekantam, Srividya, et al.
Publicado: (2022) -
Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
por: Fernando, Meranthi, et al.
Publicado: (2021) -
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
por: Degtyareva, Anna V., et al.
Publicado: (2019) -
Immunomodulatory Effects of Chitotriosidase Enzyme
por: Elmonem, Mohamed A., et al.
Publicado: (2016) -
Chitotriosidase as a biomarker for gangliosidoses
por: Kim, Sarah, et al.
Publicado: (2021)