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Niemann-Pick disease type E

MedGen UID:
82781
•Concept ID:
C0268248
•
Disease or Syndrome
Synonyms: Niemann Pick Disease, Adult Non Neuronopathic; Niemann Pick Disease, Type E; Niemann Pick's Disease Type E; Niemann-Pick Disease, Adult Non-Neuronopathic; Niemann-Pick Disease, Type E; Niemann-Pick's Disease Type E
 
Monarch Initiative: MONDO:0020384
OMIM®: 607616

Definition

Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease. [from MONDO]

Professional guidelines

PubMed

Recent advances in the treatment of Niemann pick disease type C: A mini-review.
Matencio A, Navarro-Orcajada S, González-Ramón A, García-Carmona F, López-Nicolás JM
Int J Pharm 2020 Jun 30;584:119440. Epub 2020 May 16 doi: 10.1016/j.ijpharm.2020.119440. PMID: 32428546
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP
Genet Med 2017 Sep;19(9):967-974. Epub 2017 Apr 13 doi: 10.1038/gim.2017.7. PMID: 28406489Free PMC Article
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group
Mol Genet Metab 2012 Jul;106(3):330-44. Epub 2012 May 8 doi: 10.1016/j.ymgme.2012.03.012. PMID: 22572546

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