213 related articles for article (PubMed ID: 36325261)
1. Lamellar Bodies in Podocytes Associated With Compound Heterozygous Mutations for Niemann Pick Type C1 Mimicking Fabry Disease, a Case Report.
Pintavorn P; Munie S; Munagapati S
Can J Kidney Health Dis; 2022; 9():20543581221124635. PubMed ID: 36325261
[TBL] [Abstract][Full Text] [Related]
2. Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J; Fobker M; Kannenberg F; Du Chesne I; Plate M; Wellhausen J; Rust S; Marquardt T
EBioMedicine; 2016 Feb; 4():170-5. PubMed ID: 26981555
[TBL] [Abstract][Full Text] [Related]
3. Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Reunert J; Lotz-Havla AS; Polo G; Kannenberg F; Fobker M; Griese M; Mengel E; Muntau AC; Schnabel P; Sommerburg O; Borggraefe I; Dardis A; Burlina AP; Mall MA; Ciana G; Bembi B; Burlina AB; Marquardt T
JIMD Rep; 2015; 23():17-26. PubMed ID: 25772320
[TBL] [Abstract][Full Text] [Related]
4. Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.
Romanello M; Zampieri S; Bortolotti N; Deroma L; Sechi A; Fiumara A; Parini R; Borroni B; Brancati F; Bruni A; Russo CV; Bordugo A; Bembi B; Dardis A
Clin Chim Acta; 2016 Apr; 455():39-45. PubMed ID: 26790753
[TBL] [Abstract][Full Text] [Related]
5. [Niemann-Pick type C disease and psychosis: Two siblings].
Maubert A; Hanon C; Metton JP
Encephale; 2015 Jun; 41(3):238-43. PubMed ID: 25238906
[TBL] [Abstract][Full Text] [Related]
6. Familial Alzheimer's disease associated with heterozygous
Lopergolo D; Bianchi S; Gallus GN; Locci S; Pucci B; Leoni V; Gasparini D; Tardelli E; Chincarini A; Sestini S; Santorelli FM; Zetterberg H; De Stefano N; Mignarri A
J Med Genet; 2024 Mar; 61(4):332-339. PubMed ID: 37989569
[TBL] [Abstract][Full Text] [Related]
7. Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Mengel E; Bembi B; Del Toro M; Deodato F; Gautschi M; Grunewald S; Grønborg S; Héron B; Maier EM; Roubertie A; Santra S; Tylki-Szymanska A; Day S; Symonds T; Hudgens S; Patterson MC; Guldberg C; Ingemann L; Petersen NHT; Kirkegaard T; Í Dali C
Orphanet J Rare Dis; 2020 Nov; 15(1):328. PubMed ID: 33228797
[TBL] [Abstract][Full Text] [Related]
8. Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.
Brogden G; Shammas H; Walters F; Maalouf K; Das AM; Naim HY; Rizk S
Int J Mol Sci; 2020 Mar; 21(6):. PubMed ID: 32204338
[TBL] [Abstract][Full Text] [Related]
9. Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.
Sitarska D; Ługowska A
Metab Brain Dis; 2019 Oct; 34(5):1253-1260. PubMed ID: 31197681
[TBL] [Abstract][Full Text] [Related]
10. Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
Hammerschmidt TG; de Oliveira Schmitt Ribas G; Saraiva-Pereira ML; Bonatto MP; Kessler RG; Souza FTS; Trapp F; Michelin-Tirelli K; Burin MG; Giugliani R; Vargas CR
Int J Dev Neurosci; 2018 May; 66():18-23. PubMed ID: 29197565
[TBL] [Abstract][Full Text] [Related]
11. Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel.
Park SW; Park JH; Moon HJ; Shin M; Moon JS; Ko JS
Korean J Gastroenterol; 2021 Oct; 78(4):240-244. PubMed ID: 34697279
[TBL] [Abstract][Full Text] [Related]
12. Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
Degtyareva AV; Proshlyakova TY; Gautier MS; Degtyarev DN; Kamenets EA; Baydakova GV; Rebrikov DV; Zakharova EY
BMC Med Genet; 2019 Jul; 20(1):123. PubMed ID: 31296176
[TBL] [Abstract][Full Text] [Related]
13. Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.
Yoon HJ; Jeong H; Lee HH; Jang S
J Neurochem; 2021 Mar; 156(6):967-978. PubMed ID: 32880929
[TBL] [Abstract][Full Text] [Related]
14. Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.
Chiba Y; Komori H; Takei S; Hasegawa-Ishii S; Kawamura N; Adachi K; Nanba E; Hosokawa M; Enokido Y; Kouchi Z; Yoshida F; Shimada A
Neuropathology; 2014 Feb; 34(1):49-57. PubMed ID: 23711246
[TBL] [Abstract][Full Text] [Related]
15. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
Sun X; Marks DL; Park WD; Wheatley CL; Puri V; O'Brien JF; Kraft DL; Lundquist PA; Patterson MC; Pagano RE; Snow K
Am J Hum Genet; 2001 Jun; 68(6):1361-72. PubMed ID: 11349231
[TBL] [Abstract][Full Text] [Related]
16. Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease.
Roszell BR; Tao JQ; Yu KJ; Gao L; Huang S; Ning Y; Feinstein SI; Vite CH; Bates SR
PLoS One; 2013; 8(7):e67084. PubMed ID: 23843985
[TBL] [Abstract][Full Text] [Related]
17. Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.
Dweikat I; Thaher O; Abosleem A; Zeer A; Mokh AA
BMC Med Genomics; 2021 Sep; 14(1):228. PubMed ID: 34535129
[TBL] [Abstract][Full Text] [Related]
18. δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.
Xu M; Liu K; Swaroop M; Porter FD; Sidhu R; Firnkes S; Ory DS; Marugan JJ; Xiao J; Southall N; Pavan WJ; Davidson C; Walkley SU; Remaley AT; Baxa U; Sun W; McKew JC; Austin CP; Zheng W
J Biol Chem; 2012 Nov; 287(47):39349-60. PubMed ID: 23035117
[TBL] [Abstract][Full Text] [Related]
19. Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Tao C; Zhao M; Zhang X; Hao J; Huo Q; Sun J; Xing J; Zhang Y; Zhao J; Huang H
BMC Infect Dis; 2024 Jan; 24(1):145. PubMed ID: 38291356
[TBL] [Abstract][Full Text] [Related]
20. Pediatric hepatocellular carcinoma associated with Niemann-Pick disease type C: Case report and literature review.
Hwang S; Choi Y; Lee BH; Choi JH; Kim JH; Yoo HW
JIMD Rep; 2023 Jan; 64(1):27-34. PubMed ID: 36636588
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]