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 *

305 related articles for article (PubMed ID: 26084044)

  • 21. 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]  

  • 22. 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]  

  • 23. A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.
    Lan MY; Lin SJ; Chen YF; Peng CH; Liu YF
    Ann Hematol; 2009 Jul; 88(7):695-7. PubMed ID: 19050888
    [No Abstract]   [Full Text] [Related]  

  • 24. Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management.
    Ordieres-Ortega L; Galeano-Valle F; Mallén-Pérez M; Muñoz-Delgado C; Apaza-Chavez JE; Menárguez-Palanca FJ; Alvarez-Sala Walther LA; Demelo-Rodríguez P
    BMC Med Genet; 2020 May; 21(1):94. PubMed ID: 32375665
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization].
    Cho YU; Chae JD; Lee WM; Woo JJ; Lee HB; Gong SJ; Park CJ; Kim GH; Yoo HW
    Korean J Lab Med; 2009 Apr; 29(2):97-103. PubMed ID: 19411774
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
    Acuña M; Martínez P; Moraga C; He X; Moraga M; Hunter B; Nuernberg P; Gutiérrez RA; González M; Schuchman EH; Santos JL; Miquel JF; Mabe P; Zanlungo S
    Eur J Hum Genet; 2016 Feb; 24(2):208-13. PubMed ID: 25920558
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
    Kavčič A; Homan M; Živanović M; Debeljak M; Butenko T; Drole Torkar A; Žerjav Tanšek M; Bertok S; Battelino T; Groselj U
    Am J Case Rep; 2022 Nov; 23():e937220. PubMed ID: 36333862
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Pathogenic Compound Heterozygous Mutations in a Mexican Mestizo Patient with Niemann-Pick Disease Type B.
    Velarde-Félix JS; Osuna-Ramos JF; Sánchez-Leyva MG; Ríos Burgueño ER; Monroy Arellano LM
    Genet Couns; 2016; 27(2):211-7. PubMed ID: 29485843
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.
    Simonaro CM; Park JH; Eliyahu E; Shtraizent N; McGovern MM; Schuchman EH
    Am J Hum Genet; 2006 May; 78(5):865-870. PubMed ID: 16642440
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Spontaneous splenic rupture as the first clinical manifestation of Niemann-Pick disease type B: A case report and review of the literature.
    Lan MY; Kang TW; Lan SC; Huang WT
    J Clin Lipidol; 2022; 16(4):434-437. PubMed ID: 35988956
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Preimplantation genetic diagnosis for Niemann-Pick disease type B.
    Hellani A; Schuchman EH; Al-Odaib A; Al Aqueel A; Jaroudi K; Ozand P; Coskun S
    Prenat Diagn; 2004 Dec; 24(12):943-8. PubMed ID: 15612058
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene.
    Baskfield A; Li R; Beers J; Zou J; Liu C; Zheng W
    Stem Cell Res; 2019 May; 37():101436. PubMed ID: 31009819
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
    Hu J; Maegawa GHB; Zhan X; Gao X; Wang Y; Xu F; Qiu W; Han L; Gu X; Zhang H
    Hum Mutat; 2021 May; 42(5):614-625. PubMed ID: 33675270
    [TBL] [Abstract][Full Text] [Related]  

  • 35. An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene.
    Baskfield A; Li R; Beers J; Zou J; Liu C; Zheng W
    Stem Cell Res; 2019 Jul; 38():101461. PubMed ID: 31132580
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
    Takahashi T; Suchi M; Desnick RJ; Takada G; Schuchman EH
    J Biol Chem; 1992 Jun; 267(18):12552-8. PubMed ID: 1618760
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.
    Irun P; Mallén M; Dominguez C; Rodriguez-Sureda V; Alvarez-Sala LA; Arslan N; Bermejo N; Guerrero C; Perez de Soto I; Villalón L; Giraldo P; Pocovi M
    Clin Genet; 2013 Oct; 84(4):356-61. PubMed ID: 23252888
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
    Pittis MG; Ricci V; Guerci VI; Marçais C; Ciana G; Dardis A; Gerin F; Stroppiano M; Vanier MT; Filocamo M; Bembi B
    Hum Mutat; 2004 Aug; 24(2):186-7. PubMed ID: 15241805
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.
    Cesur Baltacı HN; Taşdelen E; Topçu V; Eminoğlu FT; Karabulut HG
    J Pediatr Endocrinol Metab; 2021 May; 34(5):653-657. PubMed ID: 33647194
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.