A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure-Reference-Cited by-同舟云学术

A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure

Published:2011 Issue:21 Volume:50 Page:2663-2668
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Izumi Rumiko¹,Suzuki Naoki¹,Nagata Mari¹,Hasegawa Takafumi¹,Abe Yu²,Saito Yuka²,Mochizuki Hiroshi³,Tateyama Maki¹,Aoki Masashi¹

Affiliation:

1. Department of Neurology, Tohoku University School of Medicine, Japan

2. Department of Medical Genetics, Tohoku University School of Medicine, Japan

3. Department of Neurology, South Miyagi Medical Center, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

http://www.jstage.jst.go.jp/article/internalmedicine/50/21/50_21_2663/_pdf

Reference17 articles.

1. 1. Frerman FE, Goodman SI. Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: glutaric aciduria type 2. In: The Metabolic and Molecular Bases of Inherited Disease. Vol. 8. McGraw-Hill, New York, 2001: 2357-2365.

2. 2. Olsen RK, Olpin SE, Andresen BS, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130: 2045-2054, 2007.

3. Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges

4. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

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