BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 29095929)

  • 1. High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.
    Nedoszytko B; Siemińska A; Strapagiel D; Dąbrowski S; Słomka M; Sobalska-Kwapis M; Marciniak B; Wierzba J; Skokowski J; Fijałkowski M; Nowicki R; Kalinowski L
    PLoS One; 2017; 12(11):e0187365. PubMed ID: 29095929
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
    Piekutowska-Abramczuk D; Olsen RK; Wierzba J; Popowska E; Jurkiewicz D; Ciara E; Ołtarzewski M; Gradowska W; Sykut-Cegielska J; Krajewska-Walasek M; Andresen BS; Gregersen N; Pronicka E
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S373-7. PubMed ID: 20814823
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.
    Joost K; Ounap K; Zordania R; Uudelepp ML; Olsen RK; Kall K; Kilk K; Soomets U; Kahre T
    JIMD Rep; 2012; 2():79-85. PubMed ID: 23430857
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.
    Das AM; Illsinger S; Lücke T; Hartmann H; Ruiter JP; Steuerwald U; Waterham HR; Duran M; Wanders RJ
    Clin Chem; 2006 Mar; 52(3):530-4. PubMed ID: 16423905
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
    Fletcher AL; Pennesi ME; Harding CO; Weleber RG; Gillingham MB
    Mol Genet Metab; 2012 May; 106(1):18-24. PubMed ID: 22459206
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
    Yagi M; Lee T; Awano H; Tsuji M; Tajima G; Kobayashi H; Hasegawa Y; Yamaguchi S; Takeshima Y; Matsuo M
    Mol Genet Metab; 2011 Dec; 104(4):556-9. PubMed ID: 22000755
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.
    Liewluck T; Mundi MS; Mauermann ML
    Muscle Nerve; 2013 Dec; 48(6):989-91. PubMed ID: 23868323
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.
    Lim CC; Vockley J; Ujah O; Kirby RS; Edick MJ; Berry SA; Arnold GL
    Mol Genet Metab Rep; 2022 Sep; 32():100884. PubMed ID: 35677112
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
    Shahrokhi M; Shafiei M; Galehdari H; Shariati G
    Arch Iran Med; 2017 Jan; 20(1):22-27. PubMed ID: 28112527
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of a family with mitochondrial trifunctional protein deficiency caused by
    Yang J; Yuan D; Tan X; Zeng Y; Tang N; Chen D; Tan J; Cai R; Huang J; Yan T
    Mol Med Rep; 2022 Feb; 25(2):. PubMed ID: 34878152
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel
    Dessein AF; Hebbar E; Vamecq J; Lebredonchel E; Devos A; Ghoumid J; Mention K; Dobbelaere D; Chevalier-Curt MJ; Fontaine M; Defoort S; Smirnov V; Douillard C; Dhaenens CM
    Mol Genet Metab Rep; 2022 Jun; 31():100860. PubMed ID: 35782617
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.
    Zhang Q; Yao N; Liu Z; Xu C; Ding Z
    Am J Forensic Med Pathol; 2023 Dec; 44(4):336-339. PubMed ID: 37549033
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.
    den Boer ME; Ijlst L; Wijburg FA; Oostheim W; van Werkhoven MA; van Pampus MG; Heymans HS; Wanders RJ
    Pediatr Res; 2000 Aug; 48(2):151-4. PubMed ID: 10926288
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Long-chain fatty acid oxidation during early human development.
    Oey NA; den Boer ME; Wijburg FA; Vekemans M; Augé J; Steiner C; Wanders RJ; Waterham HR; Ruiter JP; Attié-Bitach T
    Pediatr Res; 2005 Jun; 57(6):755-9. PubMed ID: 15845636
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
    Baydakova GV; Tsygankova PG; Pechatnikova NL; Bazhanova OA; Nazarenko YD; Zakharova EY
    Int J Neonatal Screen; 2023 Aug; 9(3):. PubMed ID: 37754774
    [TBL] [Abstract][Full Text] [Related]  

  • 16. HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
    Diebold I; Schön U; Horvath R; Schwartz O; Holinski-Feder E; Kölbel H; Abicht A
    Mol Cell Probes; 2019 Apr; 44():14-20. PubMed ID: 30682426
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
    Jankowski M; Daca-Roszak P; Obracht-Prondzyński C; Płoski R; Lipska-Ziętkiewicz BS; Ziętkiewicz E
    J Appl Genet; 2022 Dec; 63(4):691-701. PubMed ID: 35971028
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
    IJlst L; Ruiter JP; Hoovers JM; Jakobs ME; Wanders RJ
    J Clin Invest; 1996 Aug; 98(4):1028-33. PubMed ID: 8770876
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
    Polinati PP; Ilmarinen T; Trokovic R; Hyotylainen T; Otonkoski T; Suomalainen A; Skottman H; Tyni T
    Invest Ophthalmol Vis Sci; 2015 May; 56(5):3371-82. PubMed ID: 26024122
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
    Tyni T; Paetau A; Strauss AW; Middleton B; Kivelä T
    Pediatr Res; 2004 Nov; 56(5):744-50. PubMed ID: 15347768
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.