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Items: 1 to 20 of 97

1.

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.

Jiang X, Sidhu R, Orsini JJ, Farhat NY, Porter FD, Berry-Kravis E, Schaffer JE, Ory DS.

Mol Genet Metab. 2019 Feb;126(2):183-187. doi: 10.1016/j.ymgme.2018.08.007. Epub 2018 Aug 24.

PMID:
30172462
2.

Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS.

Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326.

3.

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.

Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS.

J Lipid Res. 2011 Jul;52(7):1435-45. doi: 10.1194/jlr.D015735. Epub 2011 Apr 24.

4.

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. 2015 Dec 22;4:170-5. doi: 10.1016/j.ebiom.2015.12.018. eCollection 2016 Feb.

5.

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. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13.

6.

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A.

Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1.

7.

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 1;455:39-45. doi: 10.1016/j.cca.2016.01.003. Epub 2016 Jan 11.

PMID:
26790753
8.

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.

Klinke G, Rohrbach M, Giugliani R, Burda P, Baumgartner MR, Tran C, Gautschi M, Mathis D, Hersberger M.

Clin Biochem. 2015 Jun;48(9):596-602. doi: 10.1016/j.clinbiochem.2015.03.007. Epub 2015 Mar 25.

PMID:
25819840
9.

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Kuchar L, Sikora J, Gulinello ME, Poupetova H, Lugowska A, Malinova V, Jahnova H, Asfaw B, Ledvinova J.

Anal Biochem. 2017 May 15;525:73-77. doi: 10.1016/j.ab.2017.02.019. Epub 2017 Mar 1.

PMID:
28259515
10.

LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease.

Maekawa M, Misawa Y, Sotoura A, Yamaguchi H, Togawa M, Ohno K, Nittono H, Kakiyama G, Iida T, Hofmann AF, Goto J, Shimada M, Mano N.

Steroids. 2013 Oct;78(10):967-72. doi: 10.1016/j.steroids.2013.05.017. Epub 2013 Jun 7.

PMID:
23751200
11.

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.

Bleyle L, Huidekoper HH, Vaz FM, Singh R, Steiner RD, DeBarber AE.

Mol Genet Metab Rep. 2016 Mar 12;7:11-5. doi: 10.1016/j.ymgmr.2016.02.002. eCollection 2016 Jun.

12.

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.

Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R, Dietzen DJ, Fu R, Wassif CA, Yanjanin NM, Marso SP, House J, Vite C, Schaffer JE, Ory DS.

Sci Transl Med. 2010 Nov 3;2(56):56ra81. doi: 10.1126/scitranslmed.3001417.

13.

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Mazzacuva F, Mills P, Mills K, Camuzeaux S, Gissen P, Nicoli ER, Wassif C, Te Vruchte D, Porter FD, Maekawa M, Mano N, Iida T, Platt F, Clayton PT.

FEBS Lett. 2016 Jun;590(11):1651-62. doi: 10.1002/1873-3468.12196. Epub 2016 May 27.

14.

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.

Probert F, Ruiz-Rodado V, Vruchte DT, Nicoli ER, Claridge TDW, Wassif CA, Farhat N, Porter FD, Platt FM, Grootveld M.

Sci Rep. 2017 Jul 24;7(1):6320. doi: 10.1038/s41598-017-06264-2.

15.

Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry.

Legnini E, Orsini JJ, Mühl A, Johnson B, Dajnoki A, Bodamer OA.

Ann Lab Med. 2012 Sep;32(5):319-23. doi: 10.3343/alm.2012.32.5.319. Epub 2012 Aug 13.

16.

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D.

Mol Genet Metab. 2006 May;88(1):16-21. Epub 2006 Jan 31.

PMID:
16448836
17.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.

PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.

18.

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.

De Castro-Orós I, Irún P, Cebolla JJ, Rodriguez-Sureda V, Mallén M, Pueyo MJ, Mozas P, Dominguez C, Pocoví M; Spanish NP-C Group.

J Transl Med. 2017 Feb 21;15(1):43. doi: 10.1186/s12967-017-1146-3.

19.

Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1).

Tortelli B, Fujiwara H, Bagel JH, Zhang J, Sidhu R, Jiang X, Yanjanin NM, Shankar RK, Carillo-Carasco N, Heiss J, Ottinger E, Porter FD, Schaffer JE, Vite CH, Ory DS.

Hum Mol Genet. 2014 Nov 15;23(22):6022-33. doi: 10.1093/hmg/ddu331. Epub 2014 Jun 25.

20.

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.

Fan M, Sidhu R, Fujiwara H, Tortelli B, Zhang J, Davidson C, Walkley SU, Bagel JH, Vite C, Yanjanin NM, Porter FD, Schaffer JE, Ory DS.

J Lipid Res. 2013 Oct;54(10):2800-14. doi: 10.1194/jlr.M040618. Epub 2013 Jul 23.

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