Literature DB >> 32076759

[Multiple acyl-CoA dehydrogenase deficiency/glutaric aciduria type 2: difficult diagnosis, easy to treat].

M Rabenstein1, J Weis2, A Abicht3, G R Fink4, H C Lehmann4, G Wunderlich4,5.   

Abstract

Entities:  

Year:  2020        PMID： 32076759     DOI： 10.1007/s00115-020-00886-0

Source DB:  PubMed          Journal:  Nervenarzt        ISSN： 0028-2804            Impact factor:   1.214


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  9 in total

1.  Rapid alterations in MR imaging in MELAS syndrome.

Authors:  Christopher E J Doppler; Christoph Kabbasch; Gereon R Fink; Helmar C Lehmann; Gilbert Wunderlich
Journal:  Pract Neurol       Date:  2019-07-10

2.  ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.

Authors:  Jingwen Xu; Duoling Li; Jingwei Lv; Xuebi Xu; Bing Wen; Pengfei Lin; Fuchen Liu; Kunqian Ji; Jingli Shan; Honghao Li; Wei Li; Yuying Zhao; Dandan Zhao; Joo Y Pok; Chuanzhu Yan
Journal:  Ann Neurol       Date:  2018-10-19       Impact factor: 10.422

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

Authors:  Päivi Vieira; Päivi Myllynen; Marja Perhomaa; Hannu Tuominen; Riikka Keski-Filppula; Seppo Rytky; Leila Risteli; Johanna Uusimaa
Journal:  Neuropediatrics       Date:  2017-04-07       Impact factor: 1.947

4.  Electron transfer flavoprotein deficiency: functional and molecular aspects.

Authors:  Manuel Schiff; Roseline Froissart; Rikke K J Olsen; Cécile Acquaviva; Christine Vianey-Saban
Journal:  Mol Genet Metab       Date:  2006-02-28       Impact factor: 4.797

5.  Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

Authors:  Stephen I Goodman; Robert J Binard; Michael R Woontner; Frank E Frerman
Journal:  Mol Genet Metab       Date:  2002 Sep-Oct       Impact factor: 4.797

6.  Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Authors:  Rikke K J Olsen; Brage S Andresen; Ernst Christensen; Peter Bross; Flemming Skovby; Niels Gregersen
Journal:  Hum Mutat       Date:  2003-07       Impact factor: 4.878

7.  ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Authors:  Rikke K J Olsen; Simon E Olpin; Brage S Andresen; Zofia H Miedzybrodzka; Morteza Pourfarzam; Begoña Merinero; Frank E Frerman; Michael W Beresford; John C S Dean; Nanna Cornelius; Oluf Andersen; Anders Oldfors; Elisabeth Holme; Niels Gregersen; Douglass M Turnbull; Andrew A M Morris
Journal:  Brain       Date:  2007-06-20       Impact factor: 13.501

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

Authors:  Sarah C Grünert
Journal:  Orphanet J Rare Dis       Date:  2014-07-22       Impact factor: 4.123

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

Authors:  Rikke K J Olsen; Eliška Koňaříková; Teresa A Giancaspero; Signe Mosegaard; Veronika Boczonadi; Lavinija Mataković; Alice Veauville-Merllié; Caterina Terrile; Thomas Schwarzmayr; Tobias B Haack; Mari Auranen; Piero Leone; Michele Galluccio; Apolline Imbard; Purificacion Gutierrez-Rios; Johan Palmfeldt; Elisabeth Graf; Christine Vianey-Saban; Marcus Oppenheim; Manuel Schiff; Samia Pichard; Odile Rigal; Angela Pyle; Patrick F Chinnery; Vassiliki Konstantopoulou; Dorothea Möslinger; René G Feichtinger; Beril Talim; Haluk Topaloglu; Turgay Coskun; Safak Gucer; Annalisa Botta; Elena Pegoraro; Adriana Malena; Lodovica Vergani; Daniela Mazzà; Marcella Zollino; Daniele Ghezzi; Cecile Acquaviva; Tiina Tyni; Avihu Boneh; Thomas Meitinger; Tim M Strom; Niels Gregersen; Johannes A Mayr; Rita Horvath; Maria Barile; Holger Prokisch
Journal:  Am J Hum Genet       Date:  2016-06-02       Impact factor: 11.025
  9 in total

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