Diagnosis of citrullinemia type 1 carriage after identification of mild citrullinemia on neonatal screening

Pediatr Int. 2018 Apr;60(4):383-384. doi: 10.1111/ped.13515. Epub 2018 Mar 23.

Authors

Daisuke Sugawara¹, Shuhei Taniguchi¹, Hiroaki Sato¹, Ko Ichihashi¹

Affiliation

¹ Department of Pediatrics, Saitama Medical Center Jichi Medical University, Saitama, Japan.

PMID: 29573057
DOI: 10.1111/ped.13515

No abstract available

Keywords: citrullinemia type 1; genetic carrier; neonatal mass screening.

Publication types

Case Reports

MeSH terms

Argininosuccinate Synthase / genetics*
Citrullinemia / diagnosis*
Citrullinemia / genetics
Genetic Markers
Genetic Testing
Heterozygote*
Humans
Infant, Newborn
Male
Neonatal Screening*
Severity of Illness Index

Substances

Genetic Markers
Argininosuccinate Synthase