BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

266 related articles for article (PubMed ID: 29731766)

  • 1. Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
    Guo K; Zhou X; Chen X; Wu Y; Liu C; Kong Q
    Front Genet; 2018; 9():122. PubMed ID: 29731766
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
    Wang T; Ma J; Zhang Q; Gao A; Wang Q; Li H; Xiang J; Wang B
    Front Genet; 2019; 10():1052. PubMed ID: 31737040
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
    Tan J; Chen D; Chang R; Pan L; Yang J; Yuan D; Huang L; Yan T; Ning H; Wei J; Cai R
    Front Genet; 2021; 12():631688. PubMed ID: 34394177
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.
    Hao L; Liang L; Gao X; Zhan X; Ji W; Chen T; Xu F; Qiu W; Zhang H; Gu X; Han L
    Mol Genet Metab; 2024 Jan; 141(1):108098. PubMed ID: 38061323
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
    Magdy RM; Abd-Elkhalek HS; Bakheet MA; Mohamed MM
    Arch Pediatr; 2022 Jan; 29(1):36-43. PubMed ID: 34848132
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
    Tang C; Li L; Chen T; Li Y; Zhu B; Zhang Y; Yin Y; Liu X; Huang C; Miao J; Zhu B; Wang X; Zou H; Han L; Feng J; Huang Y
    Int J Neonatal Screen; 2024 Mar; 10(2):. PubMed ID: 38651393
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
    Zhang R; Qiang R; Song C; Ma X; Zhang Y; Li F; Wang R; Yu W; Feng M; Yang L; Wang X; Cai N
    Sci Rep; 2021 Jan; 11(1):2699. PubMed ID: 33514801
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
    Yang N; Gong LF; Zhao JQ; Yang HH; Ma ZJ; Liu W; Wan ZH; Kong YY
    J Pediatr Endocrinol Metab; 2020 May; 33(5):639-645. PubMed ID: 32304307
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
    Cavicchi C; Oussalah A; Falliano S; Ferri L; Gozzini A; Gasperini S; Motta S; Rigoldi M; Parenti G; Tummolo A; Meli C; Menni F; Furlan F; Daniotti M; Malvagia S; la Marca G; Chery C; Morange PE; Tregouet D; Donati MA; Guerrini R; Guéant JL; Morrone A
    Clin Epigenetics; 2021 Jul; 13(1):137. PubMed ID: 34215320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism.
    Zhou M; Deng L; Huang Y; Xiao Y; Wen J; Liu N; Zeng Y; Zhang H
    Front Pediatr; 2022; 10():855943. PubMed ID: 35664874
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.
    Sarker SK; Islam MT; Biswas A; Bhuyan GS; Sultana R; Sultana N; Rakhshanda S; Begum MN; Rahat A; Yeasmin S; Khanam M; Saha AK; Noor FA; Sajib AA; Islam ABMMK; Qadri SK; Shahidullah M; Mannan MA; Muraduzzaman AKM; Shirin T; Rahman SM; Qadri SS; Saha N; Akhteruzzaman S; Qadri F; Mannoor K
    Biomed Res Int; 2019; 2019():3460902. PubMed ID: 30723736
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population.
    Yang C; Zhou C; Xu P; Jin X; Liu W; Wang W; Huang C; Jiang M; Chen X
    Clin Chim Acta; 2020 Mar; 502():133-138. PubMed ID: 31893530
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Newborn screening for inborn errors of metabolism in a northern Chinese population.
    Liu G; Liu X; Lin Y
    J Pediatr Endocrinol Metab; 2023 Mar; 36(3):278-282. PubMed ID: 36662638
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
    Song YZ; Li BX; Hao H; Xin RL; Zhang T; Zhang CH; Kobayashi K; Wang ZN; Zheng XY
    Clin Biochem; 2008 May; 41(7-8):616-20. PubMed ID: 18291102
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
    Zong Y; Liu N; Zhao Z; Kong X
    BMC Med Genet; 2015 Jul; 16():48. PubMed ID: 26149271
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.
    Zhang W; Yang Y; Peng W; Chang J; Mei Y; Yan L; Chen Y; Wei X; Liu Y; Wang Y; Feng Z
    Front Genet; 2019; 10():1302. PubMed ID: 31998365
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
    Wang D; Zhang J; Yang R; Zhang D; Wang M; Yu C; Yang J; Huang W; Liu S; Tang S; He X
    Front Genet; 2024; 15():1395988. PubMed ID: 38863445
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
    Scolamiero E; Cozzolino C; Albano L; Ansalone A; Caterino M; Corbo G; di Girolamo MG; Di Stefano C; Durante A; Franzese G; Franzese I; Gallo G; Giliberti P; Ingenito L; Ippolito G; Malamisura B; Mazzeo P; Norma A; Ombrone D; Parenti G; Pellecchia S; Pecce R; Pierucci I; Romanelli R; Rossi A; Siano M; Stoduto T; Villani GR; Andria G; Salvatore F; Frisso G; Ruoppolo M
    Mol Biosyst; 2015 Jun; 11(6):1525-35. PubMed ID: 25689098
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
    Wang J; Li E; Wang L; Wang Z; Yang S; Zhou Q; Chen Q
    Int J Clin Exp Pathol; 2015; 8(8):9337-41. PubMed ID: 26464686
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.