scholarly journals Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings

2020 ◽  
Vol 62 (4) ◽  
pp. 657 ◽  
Author(s):  
Sevil Dorum ◽  
Cengiz Havalı ◽  
Özlem Görükmez ◽  
Orhan Görükmez
2018 ◽  
Vol 12 (1) ◽  
Author(s):  
Charles Qingchuan Li ◽  
Bruce A Barshop ◽  
Annette Feigenbaum ◽  
Paritosh C Khanna

Author(s):  
Ryan W.Y. Lee ◽  
Sandra K. Conley ◽  
Andrea Gropman ◽  
Forbes D. Porter ◽  
Eva H. Baker

2014 ◽  
Vol 18 (2) ◽  
pp. 163-170 ◽  
Author(s):  
Ünsal Yılmaz ◽  
Mehmet Çeleğen ◽  
Tuba Sevim Yılmaz ◽  
Müge Gürçınar ◽  
Aycan Ünalp

2007 ◽  
Vol 48 (5) ◽  
pp. 557-559 ◽  
Author(s):  
G. Sonmez ◽  
H. Mutlu ◽  
E. Ozturk ◽  
H. O. Sildiroglu ◽  
A. T. Keskin ◽  
...  

Glutaric aciduria or glutaric acidemia type I, an autosomal recessive disease, usually presents with an acute encephalopathic crisis in young children. We report the magnetic resonance (MR) and proton MR spectroscopy (MRS) imaging findings of a previously healthy 20-year-old man who presented with recurrent headaches. Organic acids from the patient's urine contained large amounts of adipate, glutarate, and 3-hydroxyglutarate consistent with glutaric aciduria type I.


1996 ◽  
Vol 40 (4) ◽  
pp. 675-678 ◽  
Author(s):  
David Edwin ◽  
Lynn J. Speedie ◽  
Wolfgang Kohler ◽  
Sakkubai Naidu ◽  
Hugo W. Moser ◽  
...  

2004 ◽  
Vol 80 (4) ◽  
pp. 992-997 ◽  
Author(s):  
Tom den Heijer ◽  
Sarah E Vermeer ◽  
Ewoud J van Dijk ◽  
Niels D Prins ◽  
Peter J Koudstaal ◽  
...  

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