Glutaric Aciduria Type II - PMC

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Select item 56157641.

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

Ying Xue, Yun Zhou, Keqin Zhang, Ling Li, Abudurexiti Kayoumu, Liye Chen, Yuhui Wang, Zhiqiang Lu

Lipids Health Dis. 2017; 16: 185. Published online 2017 Sep 26. doi: 10.1186/s12944-017-0576-5

PMCID:: PMC5615764

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Select item 39701092.

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle

Lynne A. Wolfe, Miao He, Jerry Vockley, Nicole Payne, William Rhead, Charles Hoppel, Elaine Spector, Kim Gernert, K. Michael Gibson

J Inherit Metab Dis. Author manuscript; available in PMC 2014 Mar 31.

Published in final edited form as: J Inherit Metab Dis. 2010 Dec; 33(0 3): S481–S487. Published online 2010 Nov 19. doi: 10.1007/s10545-010-9246-8

PMCID:: PMC3970109

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Select item 41103413.

Newborn Screening for Glutaric Aciduria-II: The New England Experience

I. Sahai, C. L. Garganta, J. Bailey, P. James, H. L. Levy, M. Martin, E. Neilan, C. Phornphutkul, D. A. Sweetser, T. H. Zytkovicz, R. B. Eaton

JIMD Rep. 2014; 13: 1–14. Published online 2013 Nov 5. doi: 10.1007/8904_2013_262

PMCID:: PMC4110341

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Select item 41103404.

Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat

Shoichi Wakitani, Shidow Torisu, Taiki Yoshino, Kazuhisa Hattanda, Osamu Yamato, Ryuji Tasaki, Haruo Fujita, Koichiro Nishino

JIMD Rep. 2014; 13: 43–51. Published online 2013 Oct 20. doi: 10.1007/8904_2013_268

PMCID:: PMC4110340

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Select item 47855655.

A novel ETFB mutation in a patient with glutaric aciduria type II

Yosuke Sudo, Ayako Sasaki, Takashi Wakabayashi, Chikahiko Numakura, Kiyoshi Hayasaka

Hum Genome Var. 2015; 1: 15016. Published online 2015 Jun 18. doi: 10.1038/hgv.2015.16

PMCID:: PMC4785565

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Select item 30405916.

State of the art in muscle lipid diseases

W-C. Liang, I. Nishino

Acta Myol. 2010 Oct; 29(2): 351–356.

PMCID:: PMC3040591

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Select item 58274307.

Oxidation of the FAD cofactor to the 8-formyl-derivative in human electron-transferring flavoprotein

Peter Augustin, Marina Toplak, Katharina Fuchs, Eva Christine Gerstmann, Ruth Prassl, Andreas Winkler, Peter Macheroux

J Biol Chem. 2018 Feb 23; 293(8): 2829–2840. Published online 2018 Jan 4. doi: 10.1074/jbc.RA117.000846

PMCID:: PMC5827430

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Select item 27912218.

Mechanisms Underlying Metabolic and Neural Defects in Zebrafish and Human Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

Yuanquan Song, Mary A. Selak, Corey T. Watson, Christopher Coutts, Paul C. Scherer, Jessica A. Panzer, Sarah Gibbs, Marion O. Scott, Gregory Willer, Ronald G. Gregg, Declan W. Ali, Michael J. Bennett, Rita J. Balice-Gordon

PLoS One. 2009; 4(12): e8329. Published online 2009 Dec 17. doi: 10.1371/journal.pone.0008329

PMCID:: PMC2791221

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Select item 45014579.

Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

Ebru Ortac Ersoy, Dorina Rama, Özlem Ünal, Serap Sivri, Arzu Topeli

Respir Med Case Rep. 2015; 15: 92–94. Published online 2015 May 11. doi: 10.1016/j.rmcr.2015.02.009

PMCID:: PMC4501457

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Select item 422258510.

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

Sarah C Grünert

Orphanet J Rare Dis. 2014; 9: 117. Published online 2014 Jul 22. doi: 10.1186/s13023-014-0117-5

PMCID:: PMC4222585

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Select item 42374211.

Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.

Y Ikeda, S M Keese, K Tanaka

J Clin Invest. 1986 Oct; 78(4): 997–1002. doi: 10.1172/JCI112691

PMCID:: PMC423742

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Select item 32955112.

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.

B A Amendt, W J Rhead

J Clin Invest. 1986 Jul; 78(1): 205–213. doi: 10.1172/JCI112553

PMCID:: PMC329551

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Select item 37044213.

Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

B Dubiel, C Dabrowski, R Wetts, K Tanaka

J Clin Invest. 1983 Nov; 72(5): 1543–1552. doi: 10.1172/JCI111113

PMCID:: PMC370442

Summary Page Browse PDF–1.2M Citation

Select item 368172514.

Multi-organ Abnormalities and mTORC1 Activation in Zebrafish Model of Multiple Acyl-CoA Dehydrogenase Deficiency

Seok-Hyung Kim, Sarah A. Scott, Michael J. Bennett, Robert P. Carson, Joshua Fessel, H. Alex Brown, Kevin C. Ess

PLoS Genet. 2013 Jun; 9(6): e1003563. Published online 2013 Jun 13. doi: 10.1371/journal.pgen.1003563

PMCID:: PMC3681725

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Select item 541702015.

Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases

Daniele Grioni, Andrea Landi, Serena Gasperini, Andrea Trezza, Leonardo Fiori, Miriam Rigoldi, Rossella Parini, Erik Pietro Sganzerla

Child Neurol Open. 2015 Oct-Dec; 2(4): 2329048X15612432. Published online 2015 Oct 25. doi: 10.1177/2329048X15612432

PMCID:: PMC5417020

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Select item 642878916.

Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases

Paulina Pokora, Aleksandra Jezela-Stanek, Agnieszka Różdżyńska-Świątkowska, Elżbieta Jurkiewicz, Anna Bogdańska, Edyta Szymańska, Dariusz Rokicki, Elżbieta Ciara, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Anna Tylki-Szymańska

Metab Brain Dis. 2019; 34(2): 641–649. Published online 2018 Dec 20. doi: 10.1007/s11011-018-0357-5

PMCID:: PMC6428789

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Select item 310924317.

Diagnosis and management of glutaric aciduria type I – revised recommendations

Stefan Kölker, Ernst Christensen, James V. Leonard, Cheryl R. Greenberg, Avihu Boneh, Alberto B. Burlina, Alessandro P. Burlina, Marjorie Dixon, Marinus Duran, Angels García Cazorla, Stephen I. Goodman, David M. Koeller, Mårten Kyllerman, Chris Mühlhausen, Edith Müller, Jürgen G. Okun, Bridget Wilcken, Georg F. Hoffmann, Peter Burgard

J Inherit Metab Dis. 2011 Jun; 34(3): 677–694. Published online 2011 Mar 23. doi: 10.1007/s10545-011-9289-5