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 *

214 related articles for article (PubMed ID: 35383965)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
    Gillingham MB; Choi D; Gregor A; Wongchaisuwat N; Black D; Scanga HL; Nischal KK; Sahel JA; Arnold G; Vockley J; Harding CO; Pennesi ME
    J Inherit Metab Dis; 2024 Jul; 47(4):746-756. PubMed ID: 38623632
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 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. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
    Kang E; Kim YM; Kang M; Heo SH; Kim GH; Choi IH; Choi JH; Yoo HW; Lee BH
    BMC Pediatr; 2018 Mar; 18(1):103. PubMed ID: 29519241
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.
    Elizondo G; Matern D; Vockley J; Harding CO; Gillingham MB
    Mol Genet Metab; 2020; 131(1-2):90-97. PubMed ID: 32928639
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.