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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

Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?
Maines E, Franceschi R, Rizzardi C, Deodato F, Piccoli G, Gragnaniello V, Burlina A, Soffiati M
J Clin Lipidol 2022 Mar-Apr;16(2):143-154. Epub 2022 Feb 1 doi: 10.1016/j.jacl.2022.01.008. PMID: 35181260
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
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
Schuchman EH
J Inherit Metab Dis 2007 Oct;30(5):654-63. Epub 2007 Jul 12 doi: 10.1007/s10545-007-0632-9. PMID: 17632693

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