219 related articles for article (PubMed ID: 28515471)
21. 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]
22. Trifunctional Protein Deficiency Due to HADHB Mutations Is a Multisystem, β-Oxidation Disorder.
Finsterer J; Zarrouk-Mahjoub S
Arch Iran Med; 2017 Dec; 20(12):767-769. PubMed ID: 29664318
[No Abstract] [Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. 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]
27. 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]
28. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Olpin SE; Clark S; Andresen BS; Bischoff C; Olsen RK; Gregersen N; Chakrapani A; Downing M; Manning NJ; Sharrard M; Bonham JR; Muntoni F; Turnbull DN; Pourfarzam M
J Inherit Metab Dis; 2005; 28(4):533-44. PubMed ID: 15902556
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. [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]
32. Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
Purevsuren J; Fukao T; Hasegawa Y; Kobayashi H; Li H; Mushimoto Y; Fukuda S; Yamaguchi S
Mol Genet Metab; 2009 Dec; 98(4):372-7. PubMed ID: 19699128
[TBL] [Abstract][Full Text] [Related]
33. Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.
Uzun ÖÜ; Çavdarlı B; Karalök S
Turk J Pediatr; 2021; 63(6):1097-1102. PubMed ID: 35023662
[TBL] [Abstract][Full Text] [Related]
34. RETINAL PHENOTYPE IN A CASE OF LCHAD/TFP DEFICIENCY WITH LATE-STAGE DIAGNOSIS.
Knowles JA; Dimopoulos IS; MacDonald IM
Retin Cases Brief Rep; 2019 Summer; 13(3):279-282. PubMed ID: 28301411
[TBL] [Abstract][Full Text] [Related]
35. Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
Haglind CB; Nordenström A; Ask S; von Döbeln U; Gustafsson J; Stenlid MH
J Inherit Metab Dis; 2015 Mar; 38(2):315-22. PubMed ID: 25141826
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
Yuasa M; Hata I; Sugihara K; Isozaki Y; Ohshima Y; Hara K; Tajima G; Shigematsu Y
Dis Markers; 2019; 2019():2984747. PubMed ID: 30881520
[TBL] [Abstract][Full Text] [Related]
39. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Sims HF; Brackett JC; Powell CK; Treem WR; Hale DE; Bennett MJ; Gibson B; Shapiro S; Strauss AW
Proc Natl Acad Sci U S A; 1995 Jan; 92(3):841-5. PubMed ID: 7846063
[TBL] [Abstract][Full Text] [Related]
40. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.
Spiekerkoetter U; Khuchua Z; Yue Z; Bennett MJ; Strauss AW
Pediatr Res; 2004 Feb; 55(2):190-6. PubMed ID: 14630990
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]