BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 36046391)

  • 1. 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]  

  • 2. Case report: The spectrum of SMPD1 pathogenic variants in Hungary.
    Molnar MJ; Szlepak T; Csürke I; Loth S; Káposzta R; Erdős M; Dezsőfi A
    Front Genet; 2023; 14():1158108. PubMed ID: 37347058
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.
    van Diggelen OP; Voznyi YV; Keulemans JL; Schoonderwoerd K; Ledvinova J; Mengel E; Zschiesche M; Santer R; Harzer K
    J Inherit Metab Dis; 2005; 28(5):733-41. PubMed ID: 16151905
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).
    Al-Eitan L; Alqa'qa' K; Amayreh W; Aljamal H; Khasawneh R; Al-Zoubi B; Okour I; Haddad A; Haddad Y; Haddad H
    Gene; 2020 Jul; 747():144683. PubMed ID: 32311413
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
    Geberhiwot T; Wasserstein M; Wanninayake S; Bolton SC; Dardis A; Lehman A; Lidove O; Dawson C; Giugliani R; Imrie J; Hopkin J; Green J; de Vicente Corbeira D; Madathil S; Mengel E; Ezgü F; Pettazzoni M; Sjouke B; Hollak C; Vanier MT; McGovern M; Schuchman E
    Orphanet J Rare Dis; 2023 Apr; 18(1):85. PubMed ID: 37069638
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
    Ranganath P; Matta D; Bhavani GS; Wangnekar S; Jain JM; Verma IC; Kabra M; Puri RD; Danda S; Gupta N; Girisha KM; Sankar VH; Patil SJ; Ramadevi AR; Bhat M; Gowrishankar K; Mandal K; Aggarwal S; Tamhankar PM; Tilak P; Phadke SR; Dalal A
    Am J Med Genet A; 2016 Oct; 170(10):2719-30. PubMed ID: 27338287
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
    Deshpande D; Gupta SK; Sarma AS; Ranganath P; Jain S JMN; Sheth J; Mistri M; Gupta N; Kabra M; Phadke SR; Girisha KM; Dua Puri R; Aggarwal S; Datar C; Mandal K; Tilak P; Muranjan M; Bijarnia-Mahay S; Rama Devi A R; Tayade NB; Ranjan A; Dalal AB
    Hum Mutat; 2021 Oct; 42(10):1336-1350. PubMed ID: 34273913
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).
    McGovern MM; Avetisyan R; Sanson BJ; Lidove O
    Orphanet J Rare Dis; 2017 Feb; 12(1):41. PubMed ID: 28228103
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.
    Mauhin W; Borie R; Dalbies F; Douillard C; Guffon N; Lavigne C; Lidove O; Brassier A
    J Clin Med; 2022 Feb; 11(4):. PubMed ID: 35207195
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
    Harzer K; Rolfs A; Bauer P; Zschiesche M; Mengel E; Backes J; Kustermann-Kuhn B; Bruchelt G; van Diggelen OP; Mayrhofer H; Krägeloh-Mann I
    Neuropediatrics; 2003 Dec; 34(6):301-6. PubMed ID: 14681755
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis.
    Pulikottil-Jacob R; Ganz ML; Fournier M; Petruski-Ivleva N
    Adv Ther; 2023 May; 40(5):2234-2248. PubMed ID: 36897522
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.
    Ota S; Noguchi A; Kondo D; Nakajima Y; Ito T; Arai H; Takahashi T
    Tohoku J Exp Med; 2020 Jan; 250(1):5-11. PubMed ID: 31941852
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.
    Cerón-Rodríguez M; Vázquez-Martínez ER; García-Delgado C; Ortega-Vázquez A; Valencia-Mayoral P; Ramírez-Devars L; Arias-Villegas C; Monroy-Muñoz IE; López M; Cervantes A; Cerbón M; Morán-Barroso VF
    Ann Hepatol; 2019; 18(4):613-619. PubMed ID: 31122880
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 9.