Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene.
Maruyama
H
H
Ogawa
M
M
Nishio
T
T
Kobayashi
K
K
Saheki
T
T
Sunohara
N
N
D002135:Calcium-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D002956:Citrulline / Q000097:blood* / Q000235:genetics*; D020159:Citrullinemia / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D008930:Mitochondria, Liver / Q000378:metabolism* / Q000473:pathology; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D009154:Mutation / Q000235:genetics*
D002135:Calcium-Binding Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C119629:SLC25A13 protein, human; D002956:Citrulline