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Items: 1 to 20 of 136

1.

Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy.

Zhao YW, Liu XJ, Zhang W, Wang ZX, Yuan Y.

Chin Med J (Engl). 2018 Jan 20;131(2):144-150. doi: 10.4103/0366-6999.222323.

2.

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.

van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M.

J Neurol Sci. 2018 Jan 15;384:121-125. doi: 10.1016/j.jns.2017.11.012. Epub 2017 Nov 15.

PMID:
29249369
3.

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS.

Mol Genet Metab. 2017 Dec;122(4):182-188. doi: 10.1016/j.ymgme.2017.10.014. Epub 2017 Nov 2.

PMID:
29122468
4.

Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.

Xue Y, Zhou Y, Zhang K, Li L, Kayoumu A, Chen L, Wang Y, Lu Z.

Lipids Health Dis. 2017 Sep 26;16(1):185. doi: 10.1186/s12944-017-0576-5.

5.

A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Chen M, Peng J, Wei W, Wang R, Xu H, Liu H.

Int J Neurosci. 2018 Mar;128(3):291-294. doi: 10.1080/00207454.2017.1380641. Epub 2017 Oct 9.

PMID:
28914566
6.

Anesthetic management of a pediatric patient with Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH) and acute appendicitis: case report and review of the literature.

Lilitsis E, Astyrakaki E, Blevrakis E, Xenaki S, Chalkiadakis G, Chrysos E.

BMC Anesthesiol. 2017 Aug 29;17(1):116. doi: 10.1186/s12871-017-0400-9. Review.

7.

Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy.

Auranen M, Paetau A, Piirilä P, Pohju A, Salmi T, Lamminen A, Löfberg M, Mosegaard S, Olsen RK, Tyni T.

Neuromuscul Disord. 2017 Jun;27(6):581-584. doi: 10.1016/j.nmd.2017.03.003. Epub 2017 Mar 9.

PMID:
28433476
8.

Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.

Vieira P, Myllynen P, Perhomaa M, Tuominen H, Keski-Filppula R, Rytky S, Risteli L, Uusimaa J.

Neuropediatrics. 2017 Jun;48(3):194-198. doi: 10.1055/s-0037-1601447. Epub 2017 Apr 7.

PMID:
28388738
9.

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.

Hackl A, Mehler K, Gottschalk I, Vierzig A, Eydam M, Hauke J, Beck BB, Liebau MC, Ensenauer R, Weber LT, Habbig S.

Pediatr Nephrol. 2017 May;32(5):791-800. doi: 10.1007/s00467-016-3556-5. Epub 2017 Jan 12.

PMID:
28083701
10.

Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.

Liang WC, Lin YF, Liu TY, Chang SC, Chen BH, Nishino I, Jong YJ.

Muscle Nerve. 2017 Sep;56(3):479-485. doi: 10.1002/mus.25501. Epub 2017 Mar 21.

PMID:
27935074
11.

Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.

Yamada K, Kobayashi H, Bo R, Purevsuren J, Mushimoto Y, Takahashi T, Hasegawa Y, Taketani T, Fukuda S, Yamaguchi S.

Brain Dev. 2017 Jan;39(1):48-57. doi: 10.1016/j.braindev.2016.08.004. Epub 2016 Aug 30.

PMID:
27591119
12.

Analysis of lipid profile in lipid storage myopathy.

Aguennouz M, Beccaria M, Purcaro G, Oteri M, Micalizzi G, Musumesci O, Ciranni A, Di Giorgio RM, Toscano A, Dugo P, Mondello L.

J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Sep 1;1029-1030:157-168. doi: 10.1016/j.jchromb.2016.06.039. Epub 2016 Jul 1.

PMID:
27428459
13.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.

Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.

14.

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, Brivet M, Fouilhoux A, Labarre-Villa A, Laquerrière A, Pérard L, Kaminsky P, Pouget J, Rigal O, Vanhulle C, Eymard B, Vianey-Saban C, Laforêt P.

Rev Neurol (Paris). 2016 Mar;172(3):231-41. doi: 10.1016/j.neurol.2015.11.008. Epub 2016 Mar 30.

PMID:
27038534
15.

Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Fu HX, Liu XY, Wang ZQ, Jin M, Wang DN, He JJ, Lin MT, Wang N.

Neurol Sci. 2016 Jul;37(7):1099-105. doi: 10.1007/s10072-016-2549-2. Epub 2016 Mar 21.

PMID:
27000805
16.

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.

Liu XY, Wang ZQ, Wang DN, Lin MT, Wang N.

Chin Med J (Engl). 2016 Jan 20;129(2):142-6. doi: 10.4103/0366-6999.173438.

17.

Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.

Wang Z, Hong D, Zhang W, Li W, Shi X, Zhao D, Yang X, Lv H, Yuan Y.

Neuromuscul Disord. 2016 Feb;26(2):170-5. doi: 10.1016/j.nmd.2015.12.002. Epub 2015 Dec 18.

PMID:
26821934
18.

Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.

Yamada K, Kobayashi H, Bo R, Takahashi T, Purevsuren J, Hasegawa Y, Taketani T, Fukuda S, Ohkubo T, Yokota T, Watanabe M, Tsunemi T, Mizusawa H, Takuma H, Shioya A, Ishii A, Tamaoka A, Shigematsu Y, Sugie H, Yamaguchi S.

Brain Dev. 2016 Mar;38(3):293-301. doi: 10.1016/j.braindev.2015.08.011. Epub 2015 Sep 26.

PMID:
26403312
19.

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.

Peng Y, Zhu M, Zheng J, Zhu Y, Li X, Wei C, Hong D.

BMC Neurol. 2015 Jul 24;15:114. doi: 10.1186/s12883-015-0380-7. Review.

20.

Metabolic annotation of 2-ethylhydracrylic acid.

Ryan RO.

Clin Chim Acta. 2015 Aug 25;448:91-7. doi: 10.1016/j.cca.2015.06.012. Epub 2015 Jun 23. Review.

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