neurometabolic disorder
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Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder

2021 ◽  
Author(s):  
Seda Kanmaz ◽  
Erdem Simsek ◽  
Sanem Yilmaz ◽  
Asude Durmaz ◽  
Hepsen Mine Serin ◽  
...  
Keyword(s):  
Neurometabolic Disorder ◽  
Transporter Deficiency

scholarly journals Child with D-2-hydroxyglutaric aciduria type II: A rare neurometabolic disorder

2021 ◽  
Vol 24 (6) ◽  
pp. 933
Author(s):  
Sangeetha Yoganathan ◽  
Rangan Srinivasaraghavan ◽  
Suvasiniz Sharma ◽  
Lisa Kratz ◽  
Prateek Malik ◽  
...  
Keyword(s):  
Type Ii ◽  
Neurometabolic Disorder

Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment

2019 ◽  
Vol 267 (3) ◽  
pp. 770-782 ◽  
Author(s):  
Joanne Trinh ◽  
Sophie Imhoff ◽  
Marija Dulovic-Mahlow ◽  
Krishna Kumar Kandaswamy ◽  
Vera Tadic ◽  
...  
Keyword(s):  
Neurometabolic Disorder

scholarly journals Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder

2019 ◽  
Vol 126 (1) ◽  
pp. 43-52 ◽  
Author(s):  
Christos Chinopoulos ◽  
Spyros Batzios ◽  
Lambertus P. van den Heuvel ◽  
Richard Rodenburg ◽  
Roel Smeets ◽  
...  
Keyword(s):  
Early Onset ◽  
Morphological Alterations ◽  
Neurometabolic Disorder

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
F. Distelmaier ◽  
L. Kremer ◽  
K. Danhauser ◽  
D. Herebian ◽  
W. Müller-Felber ◽  
...  
Keyword(s):  
Early Childhood ◽  
Repair System ◽  
Neurometabolic Disorder
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