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Sphingomyelin deposition disease,Niemann-Pick disease相关文献:
Niemann-Pick disease.
Elleder M.
Pathol Res Pract. 1989 Sep;185(3):293-328. doi: 10.1016/S0344-0338(89)80006-8.
PMID:2682573
Niemann-Pick Disease.
Bajwa H, Azhar W.
2023 Mar 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–.
PMID:32310589
Niemann-Pick Disease: A Case Report and Literature Review.
Vélez Pinos PJ, Saavedra Palacios MS, Colina Arteaga PA, Arevalo Cordova TD.
Cureus. 2023 Jan 9;15(1):e33534. doi: 10.7759/cureus.33534. eCollection 2023 Jan.
PMID:36779112
Macula halo syndrome.
Onur İU, Aşula MF, Ekinci C, Mert M.
Int Ophthalmol. 2019 Jun;39(6):1391-1395. doi: 10.1007/s10792-018-0939-6. Epub 2018 May 29.
PMID:29845436
Niemann-Pick disease: lipid storage in bone marrow macrophages.
Elleder M, Hrodek J, Cihula J.
Histochem J. 1983 Nov;15(11):1065-77. doi: 10.1007/BF01003970.
PMID:6654690
Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to tissues from patients with Niemann-Pick disease types A and C, and Gaucher disease.
Fujiwaki T, Tasaka M, Yamaguchi S.
J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):170-6. doi: 10.1016/j.jchromb.2008.05.013. Epub 2008 May 16.
PMID:18502707
Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene.
Takaichi Y, Chambers JK, Kok MK, Uchiyama H, Haritani M, Hasegawa D, Nakayama H, Uchida K.
Vet Pathol. 2020 Jul;57(4):559-564. doi: 10.1177/0300985820921810. Epub 2020 Apr 29.
PMID:32347185
Cardiovascular dysfunction and altered lysosomal signaling in a murine model of acid sphingomyelinase deficiency.
Wang YT, Moura AK, Zuo R, Roudbari K, Hu JZ, Khan SA, Wang Z, Shentu Y, Wang M, Li PL, Hao J, Zhang Y, Li X.
J Mol Med (Berl). 2025 May;103(5):599-617. doi: 10.1007/s00109-025-02542-z. Epub 2025 Apr 15.
PMID:40232391
Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases.
Zhang Y, Cheng Y, Li N, Hou Y, Jiao L, Yuan Y, Wang L, Huang Z, Han F, Li H, Zhan S.
J Clin Sleep Med. 2023 Feb 1;19(2):409-414. doi: 10.5664/jcsm.10310.
PMID:36199263
Niemann-Pick type B in adulthood.
Simões RG, Maia H.
BMJ Case Rep. 2015 Feb 5;2015:bcr2014208286. doi: 10.1136/bcr-2014-208286.
PMID:25657196
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