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 *

151 related articles for article (PubMed ID: 2468819)

  • 21. Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.
    Christensen E; Kølvraa S; Gregersen N
    Pediatr Res; 1984 Jul; 18(7):663-7. PubMed ID: 6433313
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
    Olsen RK; Andresen BS; Christensen E; Bross P; Skovby F; Gregersen N
    Hum Mutat; 2003 Jul; 22(1):12-23. PubMed ID: 12815589
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Glutaric aciduria type 2].
    Yamaguchi S; Enkhsaikhan P
    Ryoikibetsu Shokogun Shirizu; 2001; (36):86-9. PubMed ID: 11596460
    [No Abstract]   [Full Text] [Related]  

  • 24. Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
    White RA; Dowler LL; Angeloni SV; Koeller DM
    Genomics; 1996 Apr; 33(1):131-4. PubMed ID: 8617498
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Defects of fatty-acid oxidation in muscle.
    Angelini C
    Baillieres Clin Endocrinol Metab; 1990 Sep; 4(3):561-82. PubMed ID: 2268228
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
    Wilson GN; de Chadarévian JP; Kaplan P; Loehr JP; Frerman FE; Goodman SI
    Am J Med Genet; 1989 Mar; 32(3):395-401. PubMed ID: 2658591
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.
    Vianey-Saban C; Bouvier R; Cochat P; Buenerd A; Divry P; Dumoulin R; Cordier MP
    J Inherit Metab Dis; 2000 Jun; 23(4):345-8. PubMed ID: 10896290
    [No Abstract]   [Full Text] [Related]  

  • 28. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
    Olsen RK; Olpin SE; Andresen BS; Miedzybrodzka ZH; Pourfarzam M; Merinero B; Frerman FE; Beresford MW; Dean JC; Cornelius N; Andersen O; Oldfors A; Holme E; Gregersen N; Turnbull DM; Morris AA
    Brain; 2007 Aug; 130(Pt 8):2045-54. PubMed ID: 17584774
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Neuropsychiatric manifestations of defect in mitochondrial beta oxidation response to riboflavin.
    Triggs WJ; Roe CR; Rhead WJ; Hanson SK; Lin SN; Willmore LJ
    J Neurol Neurosurg Psychiatry; 1992 Mar; 55(3):209-11. PubMed ID: 1564483
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.
    Shioya A; Takuma H; Yamaguchi S; Ishii A; Hiroki M; Fukuda T; Sugie H; Shigematsu Y; Tamaoka A
    J Neurol Sci; 2014 Nov; 346(1-2):350-2. PubMed ID: 25216552
    [No Abstract]   [Full Text] [Related]  

  • 31. [Carnitine deficiency in inborn errors of metabolism].
    Sela BA; Lerman-Sagie T; Berkovitz M
    Harefuah; 1997 Nov; 133(10):419-23, 504. PubMed ID: 9418309
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Late-onset form of beta-electron transfer flavoprotein deficiency.
    Curcoy A; Olsen RK; Ribes A; Trenchs V; Vilaseca MA; Campistol J; Osorio JH; Andresen BS; Gregersen N
    Mol Genet Metab; 2003 Apr; 78(4):247-9. PubMed ID: 12706375
    [TBL] [Abstract][Full Text] [Related]  

  • 33. So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
    Beresford MW; Pourfarzam M; Turnbull DM; Davidson JE
    Neuromuscul Disord; 2006 Apr; 16(4):269-73. PubMed ID: 16527485
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.
    Mooy PD; Przyrembel H; Giesberts MA; Scholte HR; Blom W; van Gelderen HH
    Eur J Pediatr; 1984 Dec; 143(2):92-5. PubMed ID: 6394338
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Missaglia S; Tavian D; Moro L; Angelini C
    Lipids Health Dis; 2018 Nov; 17(1):254. PubMed ID: 30424791
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Metabolic defects caused by treatment with the tetrahydropyridine analog of haloperidol (HPTP), in baboons.
    Mienie LJ; Bergh JJ; Van Staden E; Steyn SJ; Pond SM; Castagnoli N; Van der Schyf CJ
    Life Sci; 1997; 61(3):265-72. PubMed ID: 9217286
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
    Wen B; Li D; Li W; Zhao Y; Yan C
    Neurol Sci; 2015 Jun; 36(6):853-9. PubMed ID: 25827849
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts.
    Ip WC; Hammond JW; Wilcken B
    J Inherit Metab Dis; 1996; 19(3):379-80. PubMed ID: 8803790
    [No Abstract]   [Full Text] [Related]  

  • 39. Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase.
    Beard SE; Goodman SI; Bemelen K; Frerman FE
    Hum Mol Genet; 1995 Feb; 4(2):157-61. PubMed ID: 7757062
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.
    Frerman FE; Goodman SI
    Proc Natl Acad Sci U S A; 1985 Jul; 82(13):4517-20. PubMed ID: 2989828
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.