BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 36046391)

  • 21. 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]  

  • 22. Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data.
    Doerr A; Farooq M; Faulkner C; Gould R; Perry K; Pulikottil-Jacob R; Rajasekhar P
    Mol Genet Metab Rep; 2024 Mar; 38():101052. PubMed ID: 38469089
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
    Mercati O; Pichard S; Ouachée M; Froissart R; Fenneteau O; Roche B; Elmaleh-Bergès M; Bertrand Y; Ogier de Baulny H; Vanier MT; Schiff M
    Eur J Paediatr Neurol; 2017 Nov; 21(6):907-911. PubMed ID: 28801223
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. A 2-bp deletion mutation in
    Kang H; Zhou M; Xie C; Lu K
    J Pediatr Endocrinol Metab; 2022 Aug; 35(8):1113-1116. PubMed ID: 35617710
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
    Gomez-Mariano G; Perez-Luz S; Ramos-Del Saz S; Matamala N; Hernandez-SanMiguel E; Fernandez-Prieto M; Gil-Martin S; Justo I; Marcacuzco A; Martinez-Delgado B
    Int J Mol Sci; 2023 Aug; 24(16):. PubMed ID: 37628828
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
    Pinto C; Sousa D; Ghilas V; Dardis A; Scarpa M; Macedo MF
    Int J Mol Sci; 2021 Nov; 22(23):. PubMed ID: 34884674
    [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. Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
    Rhein C; Mühle C; Kornhuber J; Reichel M
    Int J Mol Sci; 2015 Jun; 16(6):13649-52. PubMed ID: 26084044
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report.
    Nasereddin A; Ereqat S
    J Med Case Rep; 2018 Sep; 12(1):272. PubMed ID: 30223864
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
    Hollak CE; de Sonnaville ES; Cassiman D; Linthorst GE; Groener JE; Morava E; Wevers RA; Mannens M; Aerts JM; Meersseman W; Akkerman E; Niezen-Koning KE; Mulder MF; Visser G; Wijburg FA; Lefeber D; Poorthuis BJ
    Mol Genet Metab; 2012 Nov; 107(3):526-33. PubMed ID: 22818240
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.
    Aykut A; Karaca E; Onay H; Ucar SK; Coker M; Cogulu O; Ozkinay F
    Gene; 2013 Sep; 526(2):484-6. PubMed ID: 23618813
    [TBL] [Abstract][Full Text] [Related]  

  • 34. TAVI in Patient Suffering from Niemann-Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia.
    De Feo D; D'Anzi A; Pestrichella V; Scicchitano P; Lafranceschina C; Caragnano V; Tiecco F; Scialpi A; Laronga G; Ciccone MM; Iliceto S
    Cardiol Ther; 2023 Jun; 12(2):409-414. PubMed ID: 36867368
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
    Zampieri S; Filocamo M; Pianta A; Lualdi S; Gort L; Coll MJ; Sinnott R; Geberhiwot T; Bembi B; Dardis A
    Hum Mutat; 2016 Feb; 37(2):139-47. PubMed ID: 26499107
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.
    Zhang H; Wang Y; Gong Z; Li X; Qiu W; Han L; Ye J; Gu X
    Orphanet J Rare Dis; 2013 Jan; 8():15. PubMed ID: 23356216
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.