BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 24379101)

  • 1. Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder.
    Terrone G; Ruoppolo M; Brunetti-Pierri N; Cozzolino C; Scolamiero E; Parenti G; Romano A; Andria G; Salvatore F; Frisso G
    Neurology; 2014 Jan; 82(1):e1-4. PubMed ID: 24379101
    [No Abstract]   [Full Text] [Related]  

  • 2. [Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease].
    Yamamoto Y; Matsui N; Hiramatsu Y; Miyazaki Y; Nodera H; Izumi Y; Takashima H; Kaji R
    Rinsho Shinkeigaku; 2017 Feb; 57(2):82-87. PubMed ID: 28132977
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
    Lotz-Havla AS; Röschinger W; Schiergens K; Singer K; Karall D; Konstantopoulou V; Wortmann SB; Maier EM
    Orphanet J Rare Dis; 2018 Jul; 13(1):122. PubMed ID: 30029694
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.
    Bo R; Yamada K; Kobayashi H; Jamiyan P; Hasegawa Y; Taketani T; Fukuda S; Hata I; Niida Y; Shigematsu Y; Iijima K; Yamaguchi S
    J Hum Genet; 2017 Sep; 62(9):809-814. PubMed ID: 28515471
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
    Erdol S; Ture M; Baytan B; Yakut T; Saglam H
    J Pediatr Hematol Oncol; 2016 Nov; 38(8):661-662. PubMed ID: 27769081
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
    Suganuma H; McPhee AJ; Bratkovic D; Gibson RA; Andersen CC
    Pediatr Int; 2019 Apr; 61(4):415-416. PubMed ID: 31025818
    [No Abstract]   [Full Text] [Related]  

  • 8. Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.
    Ojala T; Nupponen I; Saloranta C; Sarkola T; Sekar P; Breilin A; Tyni T
    Eur J Pediatr; 2015 Dec; 174(12):1689-92. PubMed ID: 26070998
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: a possible role of mPTP opening as a pathomechanism in these disorders?
    Tonin AM; Amaral AU; Busanello EN; Gasparotto J; Gelain DP; Gregersen N; Wajner M
    Biochim Biophys Acta; 2014 Sep; 1842(9):1658-67. PubMed ID: 24946182
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Variation of long-chain 3-hydroxyacyl-CoA dehydrogenase DNA methylation in placenta of different preeclampsia-like mouse models].
    Han Y; Yang Z; Ding X; Yu H; Yi Y
    Zhonghua Fu Chan Ke Za Zhi; 2015 Oct; 50(10):740-6. PubMed ID: 26675572
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
    Boese EA; Jain N; Jia Y; Schlechter CL; Harding CO; Gao SS; Patel RC; Huang D; Weleber RG; Gillingham MB; Pennesi ME
    Ophthalmology; 2016 Oct; 123(10):2183-95. PubMed ID: 27491397
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency.
    Hickmann FH; Cecatto C; Kleemann D; Monteiro WO; Castilho RF; Amaral AU; Wajner M
    Biochim Biophys Acta; 2015; 1847(6-7):620-8. PubMed ID: 25868874
    [TBL] [Abstract][Full Text] [Related]  

  • 13. When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex.
    Anderson S; Brooks SS
    Neonatal Netw; 2013; 32(4):262-73. PubMed ID: 23835545
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria.
    Tonin AM; Amaral AU; Busanello EN; Grings M; Castilho RF; Wajner M
    J Bioenerg Biomembr; 2013 Feb; 45(1-2):47-57. PubMed ID: 23065309
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.
    Immonen T; Ahola E; Toppila J; Lapatto R; Tyni T; Lauronen L
    Eur J Paediatr Neurol; 2016 Jan; 20(1):38-44. PubMed ID: 26653362
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
    Rücklová K; Hrubá E; Pavlíková M; Hanák P; Farolfi M; Chrastina P; Vlášková H; Kousal B; Smolka V; Foltenová H; Adam T; Friedecký D; Ješina P; Zeman J; Kožich V; Honzík T
    Nutrients; 2021 Aug; 13(9):. PubMed ID: 34578803
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.
    Kobayashi T; Minami S; Mitani A; Tanizaki Y; Booka M; Okutani T; Yamaguchi S; Ino K
    J Obstet Gynaecol Res; 2015 May; 41(5):799-802. PubMed ID: 25420603
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical course and cardiovascular outcomes in patients with the long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
    Kwiatkowska J; Wierzba J; Karaszewska A; Kozlowski D; Sykut-Cegielska J; Stanko A
    Cardiol J; 2017; 24(1):101-104. PubMed ID: 28245050
    [No Abstract]   [Full Text] [Related]  

  • 20. MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.
    Dagher R; Massie R; Gentil BJ
    Mol Genet Metab; 2021 May; 133(1):1-7. PubMed ID: 33744096
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.