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Quoted phrase not found in phrase index: "Deficiency of 3-hydroxyacyl-CoA dehydrogenase"
Page 1
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Tyni T, Pihko H. Tyni T, et al. Acta Paediatr. 1999 Mar;88(3):237-45. doi: 10.1080/08035259950169954. Acta Paediatr. 1999. PMID: 10229030 Review.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is one of the recently discovered defects of mitochondrial fatty acid beta-oxidation. ...Female carriers of LCHAD deficiency are prone to have preeclampsia-related pregnancy co …
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is one of the recently discovered defects o …
Round Table Discussion.
Winter S, Buist NR, Longo N, Armenian SH, Lopaschuk G, Wasilewska A. Winter S, et al. Ann Nutr Metab. 2016;68 Suppl 3:21-23. doi: 10.1159/000448323. Epub 2016 Dec 9. Ann Nutr Metab. 2016. PMID: 27931031 Free article.
There was general consensus that future trials on the effect of carnitine in disorders of fatty acid oxidation should be randomized, double-blinded, multicentered and minimally include the following diagnoses: medium-chain acyl coenzyme A (CoA) dehydrogenase deficiency …
There was general consensus that future trials on the effect of carnitine in disorders of fatty acid oxidation should be randomized, double- …
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. Rücklová K, et al. Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925. Nutrients. 2021. PMID: 34578803 Free PMC article.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the pre …
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrog …
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.
den Boer ME, Wanders RJ, Morris AA, IJlst L, Heymans HS, Wijburg FA. den Boer ME, et al. Pediatrics. 2002 Jan;109(1):99-104. doi: 10.1542/peds.109.1.99. Pediatrics. 2002. PMID: 11773547
OBJECTIVES: To assess the mode of presentation, biochemical abnormalities, clinical course, and effects of therapy in patients of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. BACKGROUND: LCHAD deficiency is a rare, autos …
OBJECTIVES: To assess the mode of presentation, biochemical abnormalities, clinical course, and effects of therapy in patients of long-chain …
Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.
Elizondo G, Saini A, Gonzalez de Alba C, Gregor A, Harding CO, Gillingham MB, Vinocur JM. Elizondo G, et al. Genet Med. 2024 Jun;26(6):101123. doi: 10.1016/j.gim.2024.101123. Epub 2024 Mar 16. Genet Med. 2024. PMID: 38501492
PURPOSE: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD) is a rare fatty acid oxidation disorder characterized by recurrent episodes of metabolic decompensation and rhabdomyolysis, as well as retinopathy, peripheral neuropathy, and cardiac invo …
PURPOSE: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD) is a rare fatty acid oxidation disorder charact …
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. Fahnehjelm KT, et al. Acta Paediatr. 2016 Dec;105(12):1451-1460. doi: 10.1111/apa.13536. Epub 2016 Sep 15. Acta Paediatr. 2016. PMID: 27461099
AIM: There have been few studies on long-term electroretinographic findings in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). This study correlated long-term electroretinographic findings with age, metabolic contro …
AIM: There have been few studies on long-term electroretinographic findings in patients with long-chain 3-hydroxyacyl-CoA …
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. Immonen T, et al. Acta Paediatr. 2016 May;105(5):549-54. doi: 10.1111/apa.13313. Epub 2016 Feb 5. Acta Paediatr. 2016. PMID: 26676313 Clinical Trial.
AIM: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. ...
AIM: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, w …
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. Schwantje M, et al. J Inherit Metab Dis. 2022 Jul;45(4):819-831. doi: 10.1002/jimd.12503. Epub 2022 May 5. J Inherit Metab Dis. 2022. PMID: 35403730 Free PMC article.
Mitochondrial trifunctional protein (MTP) is involved in long-chain fatty acid beta-oxidation (lcFAO). Deficiency of one or more of the enzyme activities as catalyzed by MTP causes generalized MTP deficiency (MTPD), long-chain hydroxyacyl-CoA dehydrogenase …
Mitochondrial trifunctional protein (MTP) is involved in long-chain fatty acid beta-oxidation (lcFAO). Deficiency of one or more of t …
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
Alatibi KI, Hagenbuchner J, Wehbe Z, Karall D, Ausserlechner MJ, Vockley J, Spiekerkoetter U, Grünert SC, Tucci S. Alatibi KI, et al. Cells. 2021 May 18;10(5):1239. doi: 10.3390/cells10051239. Cells. 2021. PMID: 34069977 Free PMC article.
In order to investigate the disease specific alterations of the cellular lipidome, we performed undirected lipidomics in fibroblasts from patients with carnitine palmitoyltransferase II, very long-chain acyl-CoA dehydrogenase, and long-chain 3-hydroxyacyl- …
In order to investigate the disease specific alterations of the cellular lipidome, we performed undirected lipidomics in fibroblasts from pa …
93 results