An adult with type 2 citrullinemia presenting in Europe.
Fiermonte
Giuseppe
G
Soon
Derek
D
Chaudhuri
Abhijit
A
Paradies
Eleonora
E
Lee
Philip J
PJ
Krywawych
Steve
S
Palmieri
Ferdinando
F
Lachmann
Robin H
RH
D000328:Adult; D001224:Aspartic Acid / Q000378:metabolism; D001693:Biological Transport, Active; D020159:Citrullinemia / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D005060:Europe; D017809:Fatal Outcome; D018698:Glutamic Acid / Q000378:metabolism; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology; D008099:Liver / Q000378:metabolism; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*; D017354:Point Mutation; D017422:Sequence Analysis, DNA
D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C119629:SLC25A13 protein, human; D001224:Aspartic Acid; D018698:Glutamic Acid