BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 37453187)

  • 1. Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency.
    Eskes ECB; van der Lienden MJC; Sjouke B; van Vliet L; Brands MMMG; Hollak CEM; Aerts JMFG
    Mol Genet Metab; 2023 Aug; 139(4):107631. PubMed ID: 37453187
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 525():73-77. PubMed ID: 28259515
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
    Eskes ECB; Sjouke B; Vaz FM; Goorden SMI; van Kuilenburg ABP; Aerts JMFG; Hollak CEM
    Mol Genet Metab; 2020 May; 130(1):16-26. PubMed ID: 32088119
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.
    Cappellini MD; Motta I; Barbato A; Giuffrida G; Manna R; Carubbi F; Giona F
    Eur J Intern Med; 2023 Feb; 108():81-84. PubMed ID: 36443133
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
    Lipiński P; Kuchar L; Zakharova EY; Baydakova GV; Ługowska A; Tylki-Szymańska A
    Orphanet J Rare Dis; 2019 Feb; 14(1):55. PubMed ID: 30795770
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
    Cassiman D; Packman S; Bembi B; Turkia HB; Al-Sayed M; Schiff M; Imrie J; Mabe P; Takahashi T; Mengel KE; Giugliani R; Cox GF
    Mol Genet Metab; 2016 Jul; 118(3):206-213. PubMed ID: 27198631
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
    Oliva P; Schwarz M; Mechtler TP; Sansen S; Keutzer J; Prusa AR; Streubel B; Kasper DC
    Mol Genet Metab; 2023 May; 139(1):107563. PubMed ID: 37086570
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease.
    Murugesan V; Liu J; Yang R; Lin H; Lischuk A; Pastores G; Zhang X; Chuang WL; Mistry PK
    Blood Cells Mol Dis; 2018 Feb; 68():47-53. PubMed ID: 28003098
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency.
    Breilyn MS; Zhang W; Yu C; Wasserstein MP
    Mol Genet Metab Rep; 2021 Sep; 28():100780. PubMed ID: 34285875
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
    Kubaski F; Burlina A; Pereira D; Silva C; Herbst ZM; Trapp FB; Michelin-Tirelli K; Lopes FF; Burin MG; Brusius-Facchin AC; Netto ABO; Poletto E; Bernardes TM; Carvalho GS; Sorte NB; Ferreira FN; Perin N; Clivati MR; de Santana MTS; Lobos SFG; Leão EKEA; Coutinho MP; Pinos PV; Santos MLSF; Penatti DA; Lourenço CM; Polo G; Giugliani R
    Orphanet J Rare Dis; 2022 Nov; 17(1):407. PubMed ID: 36348386
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].
    Lidove O; Belmatoug N; Froissart R; Lavigne C; Durieu I; Mazodier K; Serratrice C; Douillard C; Goizet C; Cathebras P; Besson G; Amoura Z; Tazi A; Gatfossé M; Rivière S; Sené T; Vanier MT; Ziza JM
    Rev Med Interne; 2017 May; 38(5):291-299. PubMed ID: 27884455
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 28406489
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.
    Ries M; Schaefer E; Lührs T; Mani L; Kuhn J; Vanier MT; Krummenauer F; Gal A; Beck M; Mengel E
    J Inherit Metab Dis; 2006 Oct; 29(5):647-52. PubMed ID: 16972172
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
    Voorink-Moret M; Goorden SMI; van Kuilenburg ABP; Wijburg FA; Ghauharali-van der Vlugt JMM; Beers-Stet FS; Zoetekouw A; Kulik W; Hollak CEM; Vaz FM
    Mol Genet Metab; 2018 Feb; 123(2):76-84. PubMed ID: 29290526
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B).
    Opoka L; Wyrostkiewicz D; Radwan-Rohrenschef P; Roży A; Tylki-Szymańska A; Tomkowski W; Szturmowicz M
    Am J Case Rep; 2020 Aug; 21():e923394. PubMed ID: 32759889
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
    McGovern MM; Wasserstein MP; Bembi B; Giugliani R; Mengel KE; Vanier MT; Zhang Q; Peterschmitt MJ
    Orphanet J Rare Dis; 2021 May; 16(1):212. PubMed ID: 33971920
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
    Wasserstein M; Dionisi-Vici C; Giugliani R; Hwu WL; Lidove O; Lukacs Z; Mengel E; Mistry PK; Schuchman EH; McGovern M
    Mol Genet Metab; 2019 Feb; 126(2):98-105. PubMed ID: 30514648
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
    Scarpa M; Barbato A; Bisconti A; Burlina A; Concolino D; Deodato F; Di Rocco M; Dionisi-Vici C; Donati MA; Fecarotta S; Fiumara A; Galeone C; Giona F; Giuffrida G; Manna R; Mariani P; Pession A; Scopinaro A; Spada M; Spandonaro F; Trifirò G; Carubbi F; Cappellini MD
    Intern Emerg Med; 2023 Apr; 18(3):831-842. PubMed ID: 36882619
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency.
    Chang KL; Hwu WL; Yeh HY; Lee NC; Chien YH
    Blood Cells Mol Dis; 2010 Jan; 44(1):38-40. PubMed ID: 19819171
    [No Abstract]   [Full Text] [Related]  

  • 20. A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.
    Mengel E; Muschol N; Weinhold N; Ziagaki A; Neugebauer J; Antoni B; Langer L; Gasparic M; Guillonneau S; Fournier M; Laredo F; Pulikottil-Jacob R
    Orphanet J Rare Dis; 2024 Apr; 19(1):161. PubMed ID: 38615062
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.