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 *

136 related articles for article (PubMed ID: 24022928)

  • 1. [HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease].
    Wu T; Li X; Wang Q; Liu Y; Ding Y; Song J; Zhang Y; Yang Y
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2013 Jul; 42(4):403-10. PubMed ID: 24022928
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Clinical and molecular characteristics of a child with juvenile Sandhoff disease].
    Huang Y; Xie T; Zheng J; Zhao X; Liu H; Liu L
    Zhonghua Er Ke Za Zhi; 2014 Apr; 52(4):313-6. PubMed ID: 24915922
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.
    Kang SY; Song SK; Lee JS; Choi JC; Kang JH
    J Clin Neuromuscul Dis; 2013 Dec; 15(2):47-51. PubMed ID: 24263030
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.
    Liu M; Huang D; Wang H; Zhao L; Wang Q; Chen X
    J Mol Neurosci; 2020 Apr; 70(4):481-487. PubMed ID: 31919734
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.
    Tavasoli AR; Parvaneh N; Ashrafi MR; Rezaei Z; Zschocke J; Rostami P
    Orphanet J Rare Dis; 2018 Aug; 13(1):130. PubMed ID: 30075786
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
    Zhang W; Zeng H; Huang Y; Xie T; Zheng J; Zhao X; Sheng H; Liu H; Liu L
    Metab Brain Dis; 2016 Aug; 31(4):861-7. PubMed ID: 27021291
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
    Tim-Aroon T; Wichajarn K; Katanyuwong K; Tanpaiboon P; Vatanavicharn N; Sakpichaisakul K; Kongkrapan A; Eu-Ahsunthornwattana J; Thongpradit S; Moolsuwan K; Satproedprai N; Mahasirimongkol S; Lerksuthirat T; Suktitipat B; Jinawath N; Wattanasirichaigoon D
    BMC Pediatr; 2021 Jan; 21(1):22. PubMed ID: 33407268
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.
    Xie H; Lin S; Chen Y; Wang W; Qi Y; Li J; Chen Q; Feng X
    Medicine (Baltimore); 2023 Jun; 102(24):e33890. PubMed ID: 37327298
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.
    Fitterer BB; Antonishyn NA; Hall PL; Lehotay DC
    Genet Test Mol Biomarkers; 2012 May; 16(5):401-5. PubMed ID: 22191674
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
    Gaignard P; Fagart J; Niemir N; Puech JP; Azouguene E; Dussau J; Caillaud C
    Gene; 2013 Jan; 512(2):521-6. PubMed ID: 23046579
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
    Fitterer B; Hall P; Antonishyn N; Desikan R; Gelb M; Lehotay D
    Mol Genet Metab; 2014 Mar; 111(3):382-389. PubMed ID: 24461908
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.
    Wang SZ; Cachón-González MB; Stein PE; Lachmann RH; Corry PC; Wraith JE; Cox TM
    Mol Genet Metab; 2008 Dec; 95(4):236-8. PubMed ID: 18930675
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and genetic features of a case with juvenile onset sandhoff disease.
    Yin JH; Hu WZ; Huang Y
    BMC Neurol; 2023 Jun; 23(1):240. PubMed ID: 37344817
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Analysis of HEXB gene mutations in an infant with Sandhoff disease].
    Wu R; Tang W; Qiu K; Li Y; Lu L; Li D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):930-934. PubMed ID: 31515793
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
    Gort L; de Olano N; Macías-Vidal J; Coll MA;
    Gene; 2012 Sep; 506(1):25-30. PubMed ID: 22789865
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.
    Masri A; Liao J; Kornreich R; Haghighi A
    Eur J Paediatr Neurol; 2014 May; 18(3):399-403. PubMed ID: 24613245
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
    Zampieri S; Cattarossi S; Oller Ramirez AM; Rosano C; Lourenco CM; Passon N; Moroni I; Uziel G; Pettinari A; Stanzial F; de Kremer RD; Azar NB; Hazan F; Filocamo M; Bembi B; Dardis A
    PLoS One; 2012; 7(7):e41516. PubMed ID: 22848519
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.
    Kleiman FE; de Kremer RD; de Ramirez AO; Gravel RA; Argaraña CE
    Hum Genet; 1994 Sep; 94(3):279-82. PubMed ID: 8076944
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Early cardiac involvement in an infantile Sandhoff disease case with novel mutations.
    Lee HF; Chi CS; Tsai CR
    Brain Dev; 2017 Feb; 39(2):171-176. PubMed ID: 27697305
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
    Abiri M; Talebi S; Uitto J; Youssefian L; Vahidnezhad H; Shirzad T; Salehpour S; Zeinali S
    J Pediatr Endocrinol Metab; 2016 Oct; 29(10):1215-1219. PubMed ID: 27682710
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.