BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

355 related articles for article (PubMed ID: 23842438)

  • 21. [Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].
    Han LS; Ye J; Qiu WJ; Zhang HW; Wang Y; Ji WJ; Gao XL; Li XY; Jin J; Gu XF
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):405-9. PubMed ID: 22931933
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
    Janzen N; Hofmann AD; Schmidt G; Das AM; Illsinger S
    Orphanet J Rare Dis; 2017 Dec; 12(1):187. PubMed ID: 29268767
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLC-MS/MS.
    Minkler PE; Stoll MSK; Ingalls ST; Hoppel CL
    Mol Genet Metab; 2017 Apr; 120(4):363-369. PubMed ID: 28190699
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
    Jager EA; Kuijpers MM; Bosch AM; Mulder MF; Gozalbo ER; Visser G; de Vries M; Williams M; Waterham HR; van Spronsen FJ; Schielen PCJI; Derks TGJ
    J Inherit Metab Dis; 2019 Sep; 42(5):890-897. PubMed ID: 31012112
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
    Hall PL; Wittenauer A; Hagar A
    Mol Genet Metab; 2014 Dec; 113(4):274-7. PubMed ID: 25454677
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Screening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province.
    Dong L; Ji C; Xu J; Cui Y
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Jun; 51(3):284-289. PubMed ID: 36207830
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
    Gramer G; Haege G; Fang-Hoffmann J; Hoffmann GF; Bartram CR; Hinderhofer K; Burgard P; Lindner M
    JIMD Rep; 2015; 23():101-12. PubMed ID: 25940036
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.
    Mesbah Z; Sing Ho K; Fitzsimons P; Monavari AA; Mayne PD; Crushell E
    Ir Med J; 2019 Dec; 112(10):1016. PubMed ID: 32311243
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
    Maier EM; Liebl B; Röschinger W; Nennstiel-Ratzel U; Fingerhut R; Olgemöller B; Busch U; Krone N; v Kries R; Roscher AA
    Hum Mutat; 2005 May; 25(5):443-52. PubMed ID: 15832312
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
    Rhead WJ
    J Inherit Metab Dis; 2006; 29(2-3):370-7. PubMed ID: 16763904
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.
    Blois B; Riddell C; Dooley K; Dyack S
    J Inherit Metab Dis; 2005; 28(4):551-6. PubMed ID: 15902558
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].
    Maier EM; Pongratz J; Muntau AC; Liebl B; Nennstiel-Ratzel U; Busch U; Fingerhut R; Olgemöller B; Roscher AA; Röschinger W
    Clin Genet; 2009 Aug; 76(2):179-87. PubMed ID: 19780764
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
    Gallant NM; Leydiker K; Tang H; Feuchtbaum L; Lorey F; Puckett R; Deignan JL; Neidich J; Dorrani N; Chang E; Barshop BA; Cederbaum SD; Abdenur JE; Wang RY
    Mol Genet Metab; 2012 May; 106(1):55-61. PubMed ID: 22424739
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
    Hsu HW; Zytkovicz TH; Comeau AM; Strauss AW; Marsden D; Shih VE; Grady GF; Eaton RB
    Pediatrics; 2008 May; 121(5):e1108-14. PubMed ID: 18450854
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].
    Huang YL; Tang CF; Liu SC; Sheng HY; Tang F; Jiang X; Zheng RD; Mei HF; Liu L
    Zhonghua Er Ke Za Zhi; 2020 Jun; 58(6):476-481. PubMed ID: 32521959
    [No Abstract]   [Full Text] [Related]  

  • 38. [Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening].
    Huang XW; Zhang Y; Yang JB; Hong F; Qian GL; Tong F; Mao HQ; Huang XL; Zhou XL; Yang RL; Zhao ZY
    Zhonghua Er Ke Za Zhi; 2016 Dec; 54(12):927-930. PubMed ID: 27938594
    [No Abstract]   [Full Text] [Related]  

  • 39. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
    Gallant NM; Leydiker K; Wilnai Y; Lee C; Lorey F; Feuchtbaum L; Tang H; Carter J; Enns GM; Packman S; Lin HJ; Wilcox WR; Cederbaum SD; Abdenur JE
    Mol Genet Metab; 2017 Nov; 122(3):76-84. PubMed ID: 28711408
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
    Everard E; Laeremans H; Boemer F; Marie S; Vincent MF; Dewulf JP; Debray FG; De Laet C; Nassogne MC
    Eur J Paediatr Neurol; 2024 Mar; 49():60-65. PubMed ID: 38377647
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.