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 *

997 related articles for article (PubMed ID: 29111448)

  • 21. Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
    Landau YE; Waisbren SE; Chan LM; Levy HL
    J Inherit Metab Dis; 2017 Mar; 40(2):209-218. PubMed ID: 28054209
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
    Men S; Liu S; Zheng Q; Yang S; Mao H; Wang Z; Gu Y; Tang X; Wang L
    Mol Genet Genomic Med; 2023 Jun; 11(6):e2152. PubMed ID: 36787440
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.
    Lin Y; Wang W; Lin C; Zheng Z; Fu Q; Peng W; Chen D
    Orphanet J Rare Dis; 2021 Aug; 16(1):339. PubMed ID: 34344405
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.
    Wang S; Leng J; Diao C; Wang Y; Zheng R
    J Pediatr Endocrinol Metab; 2020 May; 33(6):683-690. PubMed ID: 32447334
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
    Bleeker JC; Kok IL; Ferdinandusse S; van der Pol WL; Cuppen I; Bosch AM; Langeveld M; Derks TGJ; Williams M; de Vries M; Mulder MF; Gozalbo ER; de Sain-van der Velden MGM; Rennings AJ; Schielen PJCI; Dekkers E; Houtkooper RH; Waterham HR; Pras-Raves ML; Wanders RJA; van Hasselt PM; Schoenmakers M; Wijburg FA; Visser G
    J Inherit Metab Dis; 2019 May; 42(3):414-423. PubMed ID: 30761551
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
    Van Calcar SC; Baker MW; Williams P; Jones SA; Xiong B; Thao MC; Lee S; Yang MK; Rice GM; Rhead W; Vockley J; Hoffman G; Durkin MS
    Mol Genet Metab; 2013; 110(1-2):111-5. PubMed ID: 23712021
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
    Ryder B; Knoll D; Love DR; Shepherd P; Love JM; Reed PW; de Hora M; Webster D; Glamuzina E; Wilson C
    J Inherit Metab Dis; 2016 May; 39(3):409-414. PubMed ID: 26743058
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.
    Lin Y; Zhu X; Zhang C; Yin X; Miao H; Hu Z; Yang J; Wu B; Huang X
    Clin Chim Acta; 2022 May; 530():113-118. PubMed ID: 35367405
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
    Pajares-García S; González de Aledo-Castillo JM; Flores-Jiménez JE; Collado T; Pérez J; Paredes-Fuentes AJ; Argudo-Ramírez A; López-Galera RM; Prats B; García-Villoria J
    Clin Chem Lab Med; 2024 Feb; 62(3):493-505. PubMed ID: 37794778
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Expanded newborn screening in the Region of Murcia, Spain. Three-years experience].
    Juan-Fita MJ; Egea-Mellado JM; González-Gallego I; Moya-Quiles MR; Fernández-Sánchez A
    Med Clin (Barc); 2012 Dec; 139(13):566-71. PubMed ID: 22137990
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
    Rovelli V; Manzoni F; Viau K; Pasquali M; Longo N
    Mol Genet Metab; 2019 May; 127(1):64-73. PubMed ID: 31031081
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
    Frazier DM; Millington DS; McCandless SE; Koeberl DD; Weavil SD; Chaing SH; Muenzer J
    J Inherit Metab Dis; 2006 Feb; 29(1):76-85. PubMed ID: 16601872
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
    Schillaci LA; Greene CL; Strovel E; Rispoli-Joines J; Spector E; Woontner M; Scharer G; Enns GM; Gallagher R; Zinn AB; McCandless SE; Hoppel CL; Goodman SI; Bedoyan JK
    Mol Genet Metab; 2016 Sep; 119(1-2):50-6. PubMed ID: 27397597
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry.
    Ozben T
    Clin Chem Lab Med; 2013 Jan; 51(1):157-76. PubMed ID: 23183752
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
    Matsumoto M; Awano H; Bo R; Nagai M; Tomioka K; Nishiyama M; Ninchouji T; Nagase H; Yagi M; Morioka I; Hasegawa Y; Takeshima Y; Iijima K
    Pediatr Int; 2018 Jan; 60(1):67-69. PubMed ID: 29059480
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Insights into National Laboratory Newborn Screening and Future Prospects.
    Mujamammi AH
    Medicina (Kaunas); 2022 Feb; 58(2):. PubMed ID: 35208595
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Newborn screening programme expanded.
    Community Pract; 2015 Feb; 88(2):5. PubMed ID: 25720200
    [No Abstract]   [Full Text] [Related]  

  • 39. Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program.
    Lim JS; Tan ES; John CM; Poh S; Yeo SJ; Ang JS; Adakalaisamy P; Rozalli RA; Hart C; Tan ET; Ranieri E; Rajadurai VS; Cleary MA; Goh DL
    Mol Genet Metab; 2014; 113(1-2):53-61. PubMed ID: 25102806
    [TBL] [Abstract][Full Text] [Related]  

  • 40. An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
    Thiboonboon K; Leelahavarong P; Wattanasirichaigoon D; Vatanavicharn N; Wasant P; Shotelersuk V; Pangkanon S; Kuptanon C; Chaisomchit S; Teerawattananon Y
    PLoS One; 2015; 10(8):e0134782. PubMed ID: 26258410
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 50.