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Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
Mol Genet Metab. 2003 Nov;80(3):302-6. doi: 10.1016/j.ymgme.2003.08.002.
Mol Genet Metab. 2003.
PMID: 14680976
Citrullinemia is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the SLC25A13 gene encoding a mitochondrial aspartate-glutamate transporter (citrullinemia type II). Citrullinemia type 1-referred to as cla …
Citrullinemia is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the SLC25A13 gene en …
Anesthetic experience of an adult male with citrullinemia type II: a case report.
Choi JJ, Kim HS, Lee KC, Shin Y, Jo YY.
Choi JJ, et al.
BMC Anesthesiol. 2016 Oct 11;16(1):92. doi: 10.1186/s12871-016-0253-7.
BMC Anesthesiol. 2016.
PMID: 27724842
Free PMC article.
BACKGROUND: Citrullinemia type II is an autosomal recessive urea cycle disorder and a subtype of citrin deficiency. ...CASE PRESENTATION: A 48-year-old male with adult onset citrullinemia type II was scheduled for urethral scrotal fistula …
BACKGROUND: Citrullinemia type II is an autosomal recessive urea cycle disorder and a subtype of citrin deficiency. ... …
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