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 *

126 related articles for article (PubMed ID: 10485305)

  • 41. Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
    Tuchman M; Berry SA; Thuy LP; Nyhan WL
    Pediatrics; 1993 Mar; 91(3):664-6. PubMed ID: 8441580
    [No Abstract]   [Full Text] [Related]  

  • 42. 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]  

  • 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. Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child.
    Rolland MO; Divry P; Zabot MT; Guibaud P; Gomez S; Lachaux A; Loras I
    J Inherit Metab Dis; 1991; 14(5):838-9. PubMed ID: 1779635
    [No Abstract]   [Full Text] [Related]  

  • 45. Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.
    Luís PB; Ruiter JP; IJlst L; Diogo L; Garcia P; de Almeida IT; Duran M; Wanders RJ; Silva MF
    J Inherit Metab Dis; 2012 May; 35(3):443-9. PubMed ID: 22189597
    [TBL] [Abstract][Full Text] [Related]  

  • 46. 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]  

  • 47. Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
    Rips J; Almashanu S; Mandel H; Josephsberg S; Lerman-Sagie T; Zerem A; Podeh B; Anikster Y; Shaag A; Luder A; Staretz Chacham O; Spiegel R
    J Inherit Metab Dis; 2016 Mar; 39(2):211-7. PubMed ID: 26566957
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxyisovaleryl carnitine increases in response to a leucine challenge in marginally biotin-deficient humans.
    Mock DM; Stratton SL; Horvath TD; Bogusiewicz A; Matthews NI; Henrich CL; Dawson AM; Spencer HJ; Owen SN; Boysen G; Moran JH
    J Nutr; 2011 Nov; 141(11):1925-30. PubMed ID: 21918059
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.
    Beemer FA; Bartlett K; Duran M; Ghneim HK; Wadman SK; Bruinvis L; Ketting D
    Eur J Pediatr; 1982 Jul; 138(4):351-4. PubMed ID: 7128647
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
    Fonseca H; Azevedo L; Serrano C; Sousa C; Marcão A; Vilarinho L
    Gene; 2016 Dec; 594(2):203-210. PubMed ID: 27601257
    [TBL] [Abstract][Full Text] [Related]  

  • 51. [A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].
    Xie B; Luo J; Lei Y; Chen R; Wang J; Zhang S; Fan X; Li W; Chen S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):657-61. PubMed ID: 27577216
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.
    Arnold GL; Salazar D; Neidich JA; Suwannarat P; Graham BH; Lichter-Konecki U; Bosch AM; Cusmano-Ozog K; Enns G; Wright EL; Lanpher BC; Owen NN; Lipson MH; Cerone R; Levy P; Wong LJ; Dezsofi A
    Mol Genet Metab; 2012 Aug; 106(4):439-41. PubMed ID: 22658692
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Acute infantile hemiplegia in a patient with propionic acidaemia.
    Shigematsu Y; Mori I; Nakai A; Kikawa Y; Kuriyama M; Konishi Y; Fujii T; Sudo M
    Eur J Pediatr; 1990 Jun; 149(9):659-60. PubMed ID: 2373122
    [TBL] [Abstract][Full Text] [Related]  

  • 54. [Amino acid imbalance as a pathogenetic factor in mental retardation (author's transl)].
    Fekete G
    Klin Wochenschr; 1974 May; 52(6):276-82. PubMed ID: 4408538
    [No Abstract]   [Full Text] [Related]  

  • 55. Next generation sequencing as a follow-up test in an expanded newborn screening programme.
    Smon A; Repic Lampret B; Groselj U; Zerjav Tansek M; Kovac J; Perko D; Bertok S; Battelino T; Trebusak Podkrajsek K
    Clin Biochem; 2018 Feb; 52():48-55. PubMed ID: 29111448
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
    Dantas MF; Suormala T; Randolph A; Coelho D; Fowler B; Valle D; Baumgartner MR
    Hum Mutat; 2005 Aug; 26(2):164. PubMed ID: 16010683
    [TBL] [Abstract][Full Text] [Related]  

  • 57. 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]  

  • 58. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
    Cho SY; Park HD; Lee YW; Ki CS; Lee SY; Sohn YB; Park SW; Kim SH; Ji S; Kim SJ; Choi EW; Kim CH; Ko AR; Paik KH; Lee DH; Jin DK
    Clin Genet; 2012 Jan; 81(1):96-8. PubMed ID: 22150417
    [No Abstract]   [Full Text] [Related]  

  • 59. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
    Baumgartner MR; Almashanu S; Suormala T; Obie C; Cole RN; Packman S; Baumgartner ER; Valle D
    J Clin Invest; 2001 Feb; 107(4):495-504. PubMed ID: 11181649
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
    Minkler PE; Stoll MS; Ingalls ST; Kerner J; Hoppel CL
    Mol Genet Metab; 2015 Dec; 116(4):231-41. PubMed ID: 26458767
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.