BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 35883096)

  • 1. Niemann-Pick type A disease with new mutation: a case report.
    Aghamahdi F; Nirouei M; Savad S
    J Med Case Rep; 2022 Jul; 16(1):288. PubMed ID: 35883096
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. A Rare Case of Niemann-Pick Disease Type-A.
    Gul F; Begum S; Rasool P; Shah S; Waqar M
    Cureus; 2024 Apr; 16(4):e59427. PubMed ID: 38826605
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Systemic lupus erythematosus occurring in a patient with Niemann-Pick type B disease.
    Murgia G; Firinu D; Meleddu R; Lorrai MM; Manconi PE; Del Giacco SR
    Lupus; 2015 Oct; 24(12):1332-4. PubMed ID: 25966928
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
    Wang R; Qin Z; Huang L; Luo H; Peng H; Zhou X; Zhao Z; Liu M; Yang P; Shi T
    Hereditas; 2023 Mar; 160(1):11. PubMed ID: 36907956
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Niemann-Pick disease in association with homozygous hemoglobin E: a case report.
    Tanphaichitr VS; Suvatte V; Tuchinda S; Mahasandana C; Wenger DA
    Southeast Asian J Trop Med Public Health; 1979 Dec; 10(4):562-7. PubMed ID: 538505
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells.
    Graber D; Salvayre R; Levade T
    J Neurochem; 1994 Sep; 63(3):1060-8. PubMed ID: 8051547
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.