Asymptomatic ASS1 carriers with high blood citrulline levels
Author:
Affiliation:
1. Department of Pediatrics National Taiwan University Hospital Taipei Taiwan
2. Department of Pediatrics Kaohsiung Veterans General Hospital Kaohsiung Taiwan
3. Department of Medical Genetics National Taiwan University Hospital Taipei Taiwan
Funder
Kaohsiung Veterans General Hospital
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2007
Reference16 articles.
1. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
2. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations
3. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
4. Structure of human argininosuccinate synthetase
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