BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 37435168)

  • 21. The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
    Deodato F; Boenzi S; Taurisano R; Semeraro M; Sacchetti E; Carrozzo R; Dionisi-Vici C
    Clin Chim Acta; 2018 Nov; 486():387-394. PubMed ID: 30153451
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use.
    Syed YY
    Clin Drug Investig; 2023 May; 43(5):369-377. PubMed ID: 37133675
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency.
    Wang NL; Lin J; Chen L; Lu Y; Xie XB; Abuduxikuer K; Wang JS
    BMC Gastroenterol; 2022 May; 22(1):227. PubMed ID: 35534800
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
    Jones SA; McGovern M; Lidove O; Giugliani R; Mistry PK; Dionisi-Vici C; Munoz-Rojas MV; Nalysnyk L; Schecter AD; Wasserstein M
    Mol Genet Metab; 2020; 131(1-2):116-123. PubMed ID: 32616389
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report.
    Thurberg BL
    Mol Genet Metab Rep; 2020 Sep; 24():100626. PubMed ID: 32714837
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.
    Giacomarra M; Colomba P; Francofonte D; Zora M; Caocci G; Diomede D; Giuffrida G; Fiori L; Montanari C; Sapuppo A; Scortechini AR; Vitturi N; Duro G; Zizzo C
    J Clin Med; 2024 Mar; 13(5):. PubMed ID: 38592326
    [No Abstract]   [Full Text] [Related]  

  • 28. Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study.
    Pulikottil-Jacob R; Dehipawala S; Smith B; Athavale A; Gusto G; Chandak A; Khachatryan A; Banon T; Fournier M; Guillonneau S; Pollissard L; Munoz-Rojas MV
    Mol Genet Metab Rep; 2024 Mar; 38():101040. PubMed ID: 38188692
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective.
    Pokrzywinski R; Hareendran A; Nalysnyk L; Cowie S; Crowe J; Hopkin J; Joshi D; Pulikottil-Jacob R
    Sci Rep; 2021 Oct; 11(1):20972. PubMed ID: 34697402
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [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]  

  • 31. Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan.
    Pan YW; Tsai MC; Yang CY; Yu WH; Wang B; Yang YJ; Chou YY
    Mol Genet Metab Rep; 2023 Mar; 34():100957. PubMed ID: 36873248
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.
    Cox GF; Clarke LA; Giugliani R; McGovern MM
    JIMD Rep; 2018; 41():119-129. PubMed ID: 29995201
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.
    Lachmann RH; Diaz GA; Wasserstein MP; Armstrong NM; Yarramaneni A; Kim Y; Kumar M
    Orphanet J Rare Dis; 2023 Apr; 18(1):94. PubMed ID: 37098529
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.
    Wasserstein MP; Diaz GA; Lachmann RH; Jouvin MH; Nandy I; Ji AJ; Puga AC
    J Inherit Metab Dis; 2018 Sep; 41(5):829-838. PubMed ID: 29305734
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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; 16(2):143-154. PubMed ID: 35181260
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.
    Blümlein U; Mengel E; Amraoui Y
    Mol Genet Metab Rep; 2022 Sep; 32():100900. PubMed ID: 36046391
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study.
    Mengel E; Scarpa M; Guffon N; Jones SA; Goriya V; Msihid J; Dyevre V; Rodriguez C; Gasparic M; Nalysnyk L; Laredo F; Pulikottil-Jacob R
    Eur J Med Genet; 2024 Jun; 70():104954. PubMed ID: 38852770
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.