181 related articles for article (PubMed ID: 27769081)
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. 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]
23. 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]
24. 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]
25. Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Li Y; He C; Li S; Wang J; Jiang L; Guo Y
Eur J Med Genet; 2021 Dec; 64(12):104344. PubMed ID: 34543737
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Rigaudière F; Delouvrier E; Le Gargasson JF; Milani P; Ogier de Baulny H; Schiff M
Doc Ophthalmol; 2021 Jun; 142(3):371-380. PubMed ID: 33392894
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
Djouadi F; Habarou F; Le Bachelier C; Ferdinandusse S; Schlemmer D; Benoist JF; Boutron A; Andresen BS; Visser G; de Lonlay P; Olpin S; Fukao T; Yamaguchi S; Strauss AW; Wanders RJ; Bastin J
J Inherit Metab Dis; 2016 Jan; 39(1):47-58. PubMed ID: 26109258
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association.
Kumar G; Nair R; Hendawy BS; AlShkeili OA; Alabdouli AA; Ali AMA; AlTenaiji AMJ
CEN Case Rep; 2019 Aug; 8(3):173-177. PubMed ID: 30747351
[TBL] [Abstract][Full Text] [Related]
35. [Variation of long-chain 3-hydroxyacyl CoA dehydrogenase DNA methylated modification and correlation with gene mRNA expression of early-onset preeclampsia, HELLP syndrome and antiphospholipid syndrome in trophoblast cells of placenta].
Meng R; Yang Z; Wang HL; Han YW; Wang YL; Yu H
Zhonghua Fu Chan Ke Za Zhi; 2016 Apr; 51(4):270-8. PubMed ID: 27116985
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Llorca-Cardeñosa A; Català-Mora J; García-Cazorla A; Meavilla S; Castejón-Ponce E
Arch Soc Esp Oftalmol; 2016 May; 91(5):236-9. PubMed ID: 26896063
[TBL] [Abstract][Full Text] [Related]
38. Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
Aydin Köker S; Yeşilbaş O; Köker A; Şevketoğlu E
Arch Argent Pediatr; 2020 Apr; 118(2):e174-e177. PubMed ID: 32199059
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Althonaian N; Alsultan A; Morava E; Alfadhel M
JIMD Rep; 2018; 42():105-111. PubMed ID: 29445937
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
