These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 36056366)

  • 21. Acid sphingomyelinase deficiency in France: a retrospective survival study.
    Mauhin W; Guffon N; Vanier MT; Froissart R; Cano A; Douillard C; Lavigne C; Héron B; Belmatoug N; Uzunhan Y; Lacombe D; Levade T; Duvivier A; Pulikottil-Jacob R; Laredo F; Pichard S; Lidove O;
    Orphanet J Rare Dis; 2024 Aug; 19(1):289. PubMed ID: 39103853
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Niemann-Pick diseases.
    Vanier MT
    Handb Clin Neurol; 2013; 113():1717-21. PubMed ID: 23622394
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. [Adult onset Niemann-Pick type C disease and psychosis: literature review].
    Maubert A; Hanon C; Metton JP
    Encephale; 2013 Oct; 39(5):315-9. PubMed ID: 23928063
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. [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]  

  • 28. 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]  

  • 29. [Ocular manifestation of an adult Niemann-Pick disease type B].
    Angeli O; Nagy Z; Schneider M
    Orv Hetil; 2023 Nov; 164(46):1838-1844. PubMed ID: 37980614
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Types A and B Niemann-Pick disease.
    Schuchman EH; Wasserstein MP
    Best Pract Res Clin Endocrinol Metab; 2015 Mar; 29(2):237-47. PubMed ID: 25987176
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. [Niemann-Pick type C disease and psychosis: Two siblings].
    Maubert A; Hanon C; Metton JP
    Encephale; 2015 Jun; 41(3):238-43. PubMed ID: 25238906
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. "It shouldn't be like this": Family caregivers navigating insurance for family members with dementia.
    Gordon Wexler M; Watman D; Perez S; Ankuda C; Reckrey JM
    J Am Geriatr Soc; 2024 May; 72(5):1453-1459. PubMed ID: 38280225
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Cultured fibroblasts from patients with Niemann-Pick disease type C and type D exhibit distinct defects in cholesterol esterification.
    Sidhu HS; Rastogi SA; Byers DM; Cook HW; Palmer FB; Spence MW
    Biochim Biophys Acta; 1992 Feb; 1124(1):29-35. PubMed ID: 1543723
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.
    Ding Y; Li X; Liu Y; Hua Y; Song J; Wang L; Li M; Qin Y; Yang Y
    Eur J Med Genet; 2016 Apr; 59(4):263-8. PubMed ID: 26851525
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
    Bolton SC; Soran V; Marfa MP; Imrie J; Gissen P; Jahnova H; Sharma R; Jones S; Santra S; Crushell E; Stampfer M; Coll MJ; Dawson C; Mathieson T; Green J; Dardis A; Bembi B; Patterson MC; Vanier MT; Geberhiwot T
    Orphanet J Rare Dis; 2022 Feb; 17(1):51. PubMed ID: 35164809
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.