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 *

208 related articles for article (PubMed ID: 12872837)

  • 41. [Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].
    Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Jin J; Gu XF
    Zhonghua Yi Xue Za Zhi; 2008 Aug; 88(30):2122-6. PubMed ID: 19080473
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
    Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Gu XF
    J Inherit Metab Dis; 2007 Aug; 30(4):507-14. PubMed ID: 17347912
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
    Lam C; Carter JM; Cederbaum SD; Neidich J; Gallant NM; Lorey F; Feuchtbaum L; Wong DA
    Mol Genet Metab; 2013 Dec; 110(4):477-83. PubMed ID: 24103308
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress.
    Zandberg L; van Dyk HC; van der Westhuizen FH; van Dijk AA
    Int J Biochem Cell Biol; 2016 Sep; 78():116-129. PubMed ID: 27417235
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
    Wood JC; Magera MJ; Rinaldo P; Seashore MR; Strauss AW; Friedman A
    Pediatrics; 2001 Jul; 108(1):E19. PubMed ID: 11433098
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
    Cicalini I; Pieragostino D; Rizzo C; Verrocchio S; Semeraro D; Zucchelli M; Di Michele S; Dionisi-Vici C; Stuppia L; De Laurenzi V; Bucci I; Rossi C
    Int J Environ Res Public Health; 2021 Feb; 18(4):. PubMed ID: 33572391
    [TBL] [Abstract][Full Text] [Related]  

  • 47. An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease.
    Ihara K; Kuromaru R; Inoue Y; Kuhara T; Matsumoto I; Yoshino M; Fukushige J
    Eur J Pediatr; 1997 Sep; 156(9):713-5. PubMed ID: 9296536
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.
    Cho KL; Kim YJ; Yang SH; Kim GH; Lee JH
    Korean J Pediatr; 2016 Nov; 59(Suppl 1):S41-S44. PubMed ID: 28018443
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.
    Eminoglu FT; Ozcelik AA; Okur I; Tumer L; Biberoglu G; Demir E; Hasanoglu A; Baumgartner MR
    J Child Neurol; 2009 Apr; 24(4):478-81. PubMed ID: 19339287
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.
    Ficicioglu C; Payan I
    Pediatrics; 2006 Dec; 118(6):2555-6. PubMed ID: 17142544
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency.
    Maeda Y; Ito T; Ohmi H; Yokoi K; Nakajima Y; Ueta A; Kurono Y; Togari H; Sugiyama N
    J Chromatogr B Analyt Technol Biomed Life Sci; 2008 Jul; 870(2):154-9. PubMed ID: 18088573
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult.
    Boneh A; Baumgartner M; Hayman M; Peters H
    J Inherit Metab Dis; 2005; 28(6):1139-40. PubMed ID: 16435208
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
    Yang L; Yang J; Zhang T; Weng C; Hong F; Tong F; Yang R; Yin X; Yu P; Huang X; Qi M
    Clin Genet; 2015 Nov; 88(5):484-8. PubMed ID: 25382614
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.
    van Calcar SC; Gleason LA; Lindh H; Hoffman G; Rhead W; Vockley G; Wolff JA; Durkin MS
    WMJ; 2007 Feb; 106(1):12-5. PubMed ID: 17393751
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
    Schymik I; Liebig M; Mueller M; Wendel U; Mayatepek E; Strauss AW; Wanders RJ; Spiekerkoetter U
    J Pediatr; 2006 Jul; 149(1):128-30. PubMed ID: 16860141
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency.
    Rodríguez JM; Ruíz-Sala P; Ugarte M; Peñalva MA
    J Biol Chem; 2004 Feb; 279(6):4578-87. PubMed ID: 14612443
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
    Holzinger A; Röschinger W; Lagler F; Mayerhofer PU; Lichtner P; Kattenfeld T; Thuy LP; Nyhan WL; Koch HG; Muntau AC; Roscher AA
    Hum Mol Genet; 2001 Jun; 10(12):1299-306. PubMed ID: 11406611
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Proficiency testing outcomes of 3-hydroxyisovalerylcarnitine measurements by tandem mass spectrometry in newborn screening.
    Lim TH; De Jesús VR; Meredith NK; Sternberg MR; Chace DH; Mei JV; Hannon WH
    Clin Chim Acta; 2011 Mar; 412(7-8):631-5. PubMed ID: 21185274
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. [Screening for neonatal inborn errors of metabolism by electrospray ionization-tandem mass spectrometry and follow-up].
    Huang XW; Yang JB; Tong F; Yang RL; Mao HQ; Zhou XL; Huang XL; Yang LL; Huang CG; Zhao ZY
    Zhonghua Er Ke Za Zhi; 2011 Oct; 49(10):765-70. PubMed ID: 22321184
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.