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 *

184 related articles for article (PubMed ID: 33638202)

  • 1. The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
    Grünert SC; Eckenweiler M; Haas D; Lindner M; Tsiakas K; Santer R; Tucci S; Spiekerkoetter U
    J Inherit Metab Dis; 2021 Jul; 44(4):893-902. PubMed ID: 33638202
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
    Nadjar Y; Souvannanorath S; Maisonobe T; Brisset M; De Lonlay P; Schiff M; Viala K; Boutron A; Nicolas G; Laforêt P
    Rev Neurol (Paris); 2020 May; 176(5):380-386. PubMed ID: 32253025
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
    Schwantje M; Fuchs SA; de Boer L; Bosch AM; Cuppen I; Dekkers E; Derks TGJ; Ferdinandusse S; Ijlst L; Houtkooper RH; Maase R; van der Pol WL; de Vries MC; Verschoof-Puite RK; Wanders RJA; Williams M; Wijburg F; Visser G
    J Inherit Metab Dis; 2022 Jul; 45(4):804-818. PubMed ID: 35383965
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. [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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
    Schwantje M; Ebberink MS; Doolaard M; Ruiter JPN; Fuchs SA; Darin N; Hedberg-Oldfors C; Régal L; Donker Kaat L; Huidekoper HH; Olpin S; Cole D; Moat SJ; Visser G; Ferdinandusse S
    J Inherit Metab Dis; 2022 Jul; 45(4):819-831. PubMed ID: 35403730
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Muscle MRI in patients with long-chain fatty acid oxidation disorders.
    Diekman EF; van der Pol WL; Nievelstein RA; Houten SM; Wijburg FA; Visser G
    J Inherit Metab Dis; 2014 May; 37(3):405-13. PubMed ID: 24305961
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
    Fraser H; Geppert J; Johnson R; Johnson S; Connock M; Clarke A; Taylor-Phillips S; Stinton C
    Orphanet J Rare Dis; 2019 Nov; 14(1):258. PubMed ID: 31730477
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
    Everard E; Laeremans H; Boemer F; Marie S; Vincent MF; Dewulf JP; Debray FG; De Laet C; Nassogne MC
    Eur J Paediatr Neurol; 2024 Mar; 49():60-65. PubMed ID: 38377647
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
    Dulz S; Atiskova Y; Engel P; Wildner J; Tsiakas K; Santer R
    Ophthalmic Genet; 2021 Feb; 42(1):23-27. PubMed ID: 33107778
    [No Abstract]   [Full Text] [Related]  

  • 14. Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
    Immonen T; Turanlahti M; Paganus A; Keskinen P; Tyni T; Lapatto R
    Acta Paediatr; 2016 May; 105(5):549-54. PubMed ID: 26676313
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.
    Madsen KL; Stemmerik MG; Buch AE; Poulsen NS; Lund AM; Vissing J
    J Clin Endocrinol Metab; 2019 Sep; 104(9):3610-3613. PubMed ID: 30990523
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
    Mütze U; Ottenberger A; Gleich F; Maier EM; Lindner M; Husain RA; Palm K; Beblo S; Freisinger P; Santer R; Thimm E; Vom Dahl S; Weinhold N; Grohmann-Held K; Haase C; Hennermann JB; Hörbe-Blindt A; Kamrath C; Marquardt I; Marquardt T; Behne R; Haas D; Spiekerkoetter U; Hoffmann GF; Garbade SF; Grünert SC; Kölker S
    Ann Clin Transl Neurol; 2024 Apr; 11(4):883-898. PubMed ID: 38263760
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.
    Fahnehjelm KT; Liu Y; Olsson D; Amrén U; Haglind CB; Holmström G; Halldin M; Andreasson S; Nordenström A
    Acta Paediatr; 2016 Dec; 105(12):1451-1460. PubMed ID: 27461099
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
    Karall D; Brunner-Krainz M; Kogelnig K; Konstantopoulou V; Maier EM; Möslinger D; Plecko B; Sperl W; Volkmar B; Scholl-Bürgi S
    Orphanet J Rare Dis; 2015 Feb; 10():21. PubMed ID: 25888220
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency.
    Androudi S; Mataftsi A; Brazitikos P
    Ophthalmol Retina; 2018 Jan; 2(1):74. PubMed ID: 31047310
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.