TY  - GEN
AU  - Ruitenbeek,Wim
AU  - Kobayashi,Keiko
AU  - Iijima,Mikio
AU  - Smeitink,Jan A M
AU  - Engelke,Udo F H
AU  - De Abreu,Ronney A
AU  - Kwast,Hanneke T
AU  - Saheki,Takeyori
AU  - Boelen,Carolien A
AU  - De Jong,Jan G N
AU  - Wevers,Ron A
TI  - Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase
SN  - 0004-5632
PY  - 2003///0625
KW  - Amino Acids
KW  - blood
KW  - Animals
KW  - Argininosuccinate Synthase
KW  - deficiency
KW  - Child, Preschool
KW  - Citrullinemia
KW  - diagnosis
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Humans
KW  - Hyperammonemia
KW  - Mice
KW  - Mutation, Missense
KW  - Rats
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Skin
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1258/000456303321016259
ER  -